chr3:178952085:A>G Detail (hg19) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,952,085-178,952,085
hg38 chr3:179,234,297-179,234,297 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.3140A>G NP_006209.2:p.His1047Arg
Ensemble ENST00000263967.4:c.3140A>G ENST00000263967.4:p.His1047Arg
ENST00000643187.1:c.*220A>G
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 161
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 171834 OMIM
HGNC 8975 HGNC
Ensembl ENSG00000121879 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15260121 TogoVar
COSMIC COSM775 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided middle third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided stomach, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided duodenum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided anal canal not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided upper third of oesophagus not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided oesophagus, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided duodenum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided anal canal not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic Endometrial somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
not provided Carcinoma of pancreas (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
not provided Endometrial carcinoma (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Pathogenic breast somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
not provided Biliary cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Breast cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Soft tissue sarcoma somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided pancreatic cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Breast carcinoma somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Salivary carcinoma somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
Pathogenic PIK3CA-related overgrowth syndrome (PROS) somatic MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
not provided breast cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided lung cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided other somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided stomach cancer somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided upper third of oesophagus not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided fundus of stomach not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided duodenum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided anal canal not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided intrahepatic bile duct carcinoma not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-06-24 no assertion criteria provided breast adenocarcinoma somatic Detail
Pathogenic 2012-06-24 no assertion criteria provided OVARIAN CANCER, EPITHELIAL, SOMATIC somatic Detail
Pathogenic 2012-06-24 no assertion criteria provided Carcinoma of colon somatic Detail
Pathogenic Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Pathogenic 2012-06-24 no assertion criteria provided seborrheic keratosis somatic Detail
Pathogenic 2019-11-11 criteria provided, multiple submitters, no conflicts CLOVES syndrome unknown somatic de novo germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2019-04-19 criteria provided, single submitter PIK3CA related overgrowth syndrome somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided pancreatic adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Adrenal cortex carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided ovarian serous cystadenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma type 1 somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Pathogenic criteria provided, single submitter somatic Detail
Pathogenic 2012-06-24 no assertion criteria provided MACRODACTYLY, SOMATIC somatic Detail
Pathogenic Likely pathogenic 2022-08-03 criteria provided, multiple submitters, no conflicts not provided germline somatic Detail
Pathogenic 2019-04-30 no assertion criteria provided Lip and oral cavity carcinoma somatic Detail
Pathogenic no assertion criteria provided somatic Detail
Pathogenic criteria provided, single submitter Congenital macrodactylia somatic Detail
Pathogenic 2021-04-06 criteria provided, single submitter somatic Detail
Pathogenic 2021-04-06 criteria provided, single submitter somatic Detail
Pathogenic 2012-06-24 no assertion criteria provided CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC somatic Detail
Pathogenic 2021-10-01 criteria provided, single submitter CLAPO syndrome unknown Detail
Pathogenic 2021-09-30 no assertion criteria provided Cerebrofacial Vascular Metameric Syndrome (CVMS) somatic Detail
Pathogenic 2021-02-12 criteria provided, single submitter Megalencephaly-capillary malformation-polymicrogyria syndrome somatic Detail
Pathogenic 2022-02-11 reviewed by expert panel Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes germline Detail
Pathogenic 2012-06-24 no assertion criteria provided Gastric cancer somatic Detail
Pathogenic no assertion criteria provided breast carcinoma somatic Detail
Pathogenic 2023-03-23 criteria provided, single submitter Klippel-Trenaunay-like-Syndrome somatic Detail
Likely pathogenic 2024-03-19 no assertion criteria provided Rare venous malformation somatic Detail
Likely pathogenic 2024-03-19 no assertion criteria provided Rare combined vascular malformation somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
head and neck cancer Dactolisib D Predictive Supports Sensitivity/Response Somatic 1 25855885 Detail
head and neck cancer Dactolisib D Predictive Supports Sensitivity/Response Somatic 2 23619167 Detail
head and neck cancer Dactolisib,Cetuximab D Predictive Supports Sensitivity/Response Somatic 2 23619167 Detail
head and neck cancer Alpelisib D Predictive Supports Sensitivity/Response Somatic 1 25550549 Detail
lung adenocarcinoma Dactolisib D Predictive Supports Sensitivity/Response Somatic 3 19029981 Detail
head and neck squamous cell carcinoma Taselisib D Predictive Supports Sensitivity/Response Somatic 2 26589432 Detail
Her2-receptor positive breast cancer Capivasertib,Trastuzumab D Predictive Supports Sensitivity/Response Somatic 3 22294718 Detail
Her2-receptor positive breast cancer Capivasertib,Lapatinib D Predictive Supports Sensitivity/Response Somatic 3 22294718 Detail
Her2-receptor positive breast cancer Everolimus,Fulvestrant C Predictive Supports Sensitivity/Response Somatic 2 27445490 Detail
thyroid cancer Perifosine,Temsirolimus D Predictive Supports Sensitivity/Response Somatic 3 19706758 Detail
breast cancer B Prognostic Supports Better Outcome Somatic 2 17202311 Detail
breast cancer Trastuzumab D Predictive Supports Resistance Somatic 3 20453058 Detail
Her2-receptor positive breast cancer Trastuzumab Emtansine B Predictive Supports Sensitivity/Response Somatic 3 26920887 Detail
colorectal cancer B Prognostic Supports Poor Outcome Somatic 3 17590872 Detail
colorectal cancer B Prognostic Supports Poor Outcome Somatic 3 19903786 Detail
colorectal cancer Panitumumab,Cetuximab B Predictive Does Not Support Resistance Somatic 2 19223544 Detail
breast cancer PI3K-alpha Inhibitor MEN1611 D Predictive Supports Sensitivity/Response Somatic 4 21558396 Detail
colorectal cancer Panitumumab,Cetuximab C Predictive Supports Resistance Somatic 2 19223544 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.129 ovarian neoplasm NA CLINVAR Detail
0.361 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi NA CLINVAR Detail
<0.001 Mixed Salivary Gland Tumor The only case of SDC with anaplastic transformation showed PIK3CA p.H1047R mutat... BeFree 23851329 Detail
0.377 liver carcinoma NA CLINVAR Detail
0.304 Malignant neoplasm of breast In this study, we report the development of a knock-in mouse model for breast ca... BeFree 22370636 Detail
<0.001 lipomatosis Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesente... BeFree 24903541 Detail
0.065 breast carcinoma Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation a... BeFree 23633485 Detail
0.009 Mammary Neoplasms All mutations were mutually exclusive, apart from one basal-like breast tumour w... BeFree 24318467 Detail
0.018 breast carcinoma Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation a... BeFree 23633485 Detail
0.065 breast carcinoma Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that ... BeFree 22315990 Detail
<0.001 Progressive Neoplastic Disease Whole exome sequencing performed in tumor tissue obtained at the time of progres... BeFree 23470635 Detail
0.049 Carcinogenesis Using in situ genetic lineage tracing and limiting dilution transplantation, we ... BeFree 26266975 Detail
0.171 Mammary Neoplasms Our results suggest that the PIK3CA H1047R oncogene targets a multipotent progen... BeFree 21482677 Detail
0.049 Carcinogenesis Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that ... BeFree 22315990 Detail
<0.001 Anaplasia Here we show that expression of PIK3CA(H1047R) in lineage-committed basal Lgr5-p... BeFree 26266975 Detail
0.171 Mammary Neoplasms We found that activation of the latent Pik3ca(H1047R) allele resulted in breast ... BeFree 22370636 Detail
0.065 breast carcinoma To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a... BeFree 21822287 Detail
0.304 Malignant neoplasm of breast Using in situ genetic lineage tracing and limiting dilution transplantation, we ... BeFree 26266975 Detail
0.065 breast carcinoma In this study, we report the development of a knock-in mouse model for breast ca... BeFree 22370636 Detail
<0.001 Progressive Neoplastic Disease Whole exome sequencing performed in tumor tissue obtained at the time of progres... BeFree 23470635 Detail
0.171 Mammary Neoplasms All mutations were mutually exclusive, apart from one basal-like breast tumour w... BeFree 24318467 Detail
0.304 Malignant neoplasm of breast To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a... BeFree 21822287 Detail
0.030 Neoplasm Metastasis In addition, the oncogenic PIK3CA(H1047R) mutation was detected in a subpopulati... BeFree 23948972 Detail
<0.001 Mammary Tumorigenesis Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mamm... BeFree 22370636 Detail
0.304 Malignant neoplasm of breast Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that ... BeFree 22315990 Detail
0.065 breast carcinoma Using in situ genetic lineage tracing and limiting dilution transplantation, we ... BeFree 26266975 Detail
0.377 liver carcinoma Moreover, by analyzing primary HCC tissue samples we were able to demonstrate th... BeFree 23167739 Detail
<0.001 Progressive cGVHD Whole exome sequencing performed in tumor tissue obtained at the time of progres... BeFree 23470635 Detail
<0.001 Benign symmetrical lipomatosis Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesente... BeFree 24903541 Detail
0.018 Malignant neoplasm of breast Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation a... BeFree 23633485 Detail
<0.001 Progressive cGVHD Whole exome sequencing performed in tumor tissue obtained at the time of progres... BeFree 23470635 Detail
0.120 breast adenocarcinoma NA CLINVAR Detail
0.137 Non-small cell lung carcinoma NA CLINVAR Detail
0.080 breast carcinoma This study proposed to investigate the relationship of PIK3CA somatic mutations,... BeFree 25027743 Detail
0.080 breast carcinoma This study proposed to investigate the relationship of PIK3CA somatic mutations,... BeFree 25027743 Detail
0.001 cholangiocarcinoma PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), ... BeFree 18181165 Detail
0.131 colon carcinoma NA CLINVAR Detail
0.240 Malignant neoplasm of breast This study proposed to investigate the relationship of PIK3CA somatic mutations,... BeFree 25027743 Detail
0.364 seborrheic keratosis NA CLINVAR Detail
0.246 Stomach Neoplasms NA CLINVAR Detail
0.036 breast carcinoma This study proposed to investigate the relationship of PIK3CA somatic mutations,... BeFree 25027743 Detail
0.051 Malignant neoplasm of breast This study proposed to investigate the relationship of PIK3CA somatic mutations,... BeFree 25027743 Detail
0.104 Malignant neoplasm of breast This study proposed to investigate the relationship of PIK3CA somatic mutations,... BeFree 25027743 Detail
0.377 liver carcinoma PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), ... BeFree 18181165 Detail
0.128 Epithelial ovarian cancer NA CLINVAR Detail
<0.001 Pancreatic intraepithelial neoplasia Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mou... BeFree 22628411 Detail
<0.001 Pancreatic intraepithelial neoplasia Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mou... BeFree 22628411 Detail
0.272 melanoma Although BRAF(V600E)/PIK3CA(H1047R) melanomas were sensitive to the antiprolifer... BeFree 25472943 Detail
Annotation

Annotations

DescrptionSourceLinks
Lentiviral transduction of PIK3CA H1047R mutation into head and neck cancer cell line SCC25 led to i... CIViC Evidence Detail
Two head and neck cancer cell lines with PIK3CA H1047R mutation were more sensitive to PI3K/mTOR inh... CIViC Evidence Detail
Xenografts from one head and neck cancer cell line (CAL-33) with a PIK3CA H1047R mutation were more ... CIViC Evidence Detail
In a panel of head and neck cancer cell lines, 2 lines containing the PIK3CA mutation H1047R (Detroi... CIViC Evidence Detail
Doxycycline dependent expression of the PIK3CA H1047R mutation in mouse type II alveolar epithelial ... CIViC Evidence Detail
The Cal-33 HNSCC cell line with H1047R mutation was found to have a low antiproliferative IC50 value... CIViC Evidence Detail
Tumor xenografts in mice were established with the KPL4 HER2 positive breast cancer cell line with P... CIViC Evidence Detail
The HER2 breast cancer cell line KPL4 with PIK3CA H1047R shows sub-optimal responses to trastuzumab ... CIViC Evidence Detail
Case report of a 44-year-old patient with recurrent HER2-positive breast cancer. The primary tumor w... CIViC Evidence Detail
Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathwa... CIViC Evidence Detail
In Japanese invasive breast cancer patients, PIK3CA mutation was associated with improved relapse-fr... CIViC Evidence Detail
Breast cancer cell lines with oncogenic PIK3CA mutations had an increased sensitivity to treatment w... CIViC Evidence Detail
In a phase 3 clinical trial (NCT00829166), metastatic breast cancer patients with PIK3CA mutation (n... CIViC Evidence Detail
In colorectal cancer, PIK3CA mutations were associated with reduced relapse-free survival in stage I... CIViC Evidence Detail
Rectal cancer patients with PIK3CA mutations showed a higher risk of local recurrence (HR:3.5; 95% C... CIViC Evidence Detail
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... CIViC Evidence Detail
Breast cancer cell lines with H1047R mutation showed increased sensitivity to CH5132799 than cells w... CIViC Evidence Detail
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... CIViC Evidence Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Breast adenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND OVARIAN CANCER, EPITHELIAL, SOMATIC ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Carcinoma of colon ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Hepatocellular carcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Non-small cell lung carcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Seborrheic keratosis ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND CLOVES syndrome ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Neoplasm of ovary ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND PIK3CA related overgrowth syndrome ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Malignant melanoma of skin ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Pancreatic adenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Medulloblastoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Lung adenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Uterine carcinosarcoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Brainstem glioma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Squamous cell lung carcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Adrenal cortex carcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Ovarian serous cystadenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Neoplasm of brain ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Breast neoplasm ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Neoplasm of the large intestine ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Carcinoma of esophagus ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Neoplasm ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Neoplasm of uterine cervix ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Glioblastoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Prostate adenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Gastric adenocarcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Rosette-forming glioneuronal tumor ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND MACRODACTYLY, SOMATIC ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND not provided ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Lip and oral cavity carcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Abnormal cardiovascular system morphology ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Congenital macrodactylia ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Segmental undergrowth associated with mainly venous... ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Segmental undergrowth associated with lymphatic mal... ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND CLAPO syndrome ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Cerebrofacial Vascular Metameric Syndrome (CVMS) ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Megalencephaly-capillary malformation-polymicrogyri... ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Overgrowth syndrome and/or cerebral malformations d... ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Gastric cancer ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Breast carcinoma ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Klippel-Trenaunay-like-Syndrome ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Rare venous malformation ClinVar Detail
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND Rare combined vascular malformation ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The only case of SDC with anaplastic transformation showed PIK3CA p.H1047R mutation, whereas 1 of 2 ... DisGeNET Detail
NA DisGeNET Detail
In this study, we report the development of a knock-in mouse model for breast cancer where the endog... DisGeNET Detail
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. DisGeNET Detail
Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation and PI3K signaling in... DisGeNET Detail
All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutat... DisGeNET Detail
Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation and PI3K signaling in... DisGeNET Detail
Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1... DisGeNET Detail
Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonst... DisGeNET Detail
Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the ... DisGeNET Detail
Our results suggest that the PIK3CA H1047R oncogene targets a multipotent progenitor cell and, furth... DisGeNET Detail
Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1... DisGeNET Detail
Here we show that expression of PIK3CA(H1047R) in lineage-committed basal Lgr5-positive and luminal ... DisGeNET Detail
We found that activation of the latent Pik3ca(H1047R) allele resulted in breast tumors with multiple... DisGeNET Detail
To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of brea... DisGeNET Detail
Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the ... DisGeNET Detail
In this study, we report the development of a knock-in mouse model for breast cancer where the endog... DisGeNET Detail
Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonst... DisGeNET Detail
All mutations were mutually exclusive, apart from one basal-like breast tumour which harboured mutat... DisGeNET Detail
To elucidate mechanisms of resistance to PI3K-targeted therapy, we constructed a mouse model of brea... DisGeNET Detail
In addition, the oncogenic PIK3CA(H1047R) mutation was detected in a subpopulation of PV1, but this ... DisGeNET Detail
Conditional activation of Pik3ca(H1047R) in a knock-in mouse model promotes mammary tumorigenesis an... DisGeNET Detail
Recent studies by Meyer and colleagues, and Liu and colleagues demonstrate that expression of the H1... DisGeNET Detail
Using in situ genetic lineage tracing and limiting dilution transplantation, we have unravelled the ... DisGeNET Detail
Moreover, by analyzing primary HCC tissue samples we were able to demonstrate that a hotspot mutatio... DisGeNET Detail
Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonst... DisGeNET Detail
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. DisGeNET Detail
Furthermore, coinhibition of p110α and ErbB3 potently suppressed proliferation and PI3K signaling in... DisGeNET Detail
Whole exome sequencing performed in tumor tissue obtained at the time of progressive disease demonst... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... DisGeNET Detail
This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... DisGeNET Detail
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladde... DisGeNET Detail
NA DisGeNET Detail
This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... DisGeNET Detail
This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... DisGeNET Detail
This study proposed to investigate the relationship of PIK3CA somatic mutations, the most common act... DisGeNET Detail
PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladde... DisGeNET Detail
NA DisGeNET Detail
Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mouse pancreas leads to... DisGeNET Detail
Here, we show that expression of BRAF(V600E), but not PIK3CA(H1047R), in the mouse pancreas leads to... DisGeNET Detail
Although BRAF(V600E)/PIK3CA(H1047R) melanomas were sensitive to the antiproliferative effects of sel... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913279 dbSNP
Genome
hg19
Position
chr3:178,952,085-178,952,085
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
8588
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120230
Allele Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
8.31739166597355E-6
Variant (CIViC) (CIViC Variant)
H1047R
Transcript 1 (CIViC Variant)
ENST00000263967.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/107
Summary (CIViC Variant)
PIK3CA H1047R is one of the most recurrent single nucleotide variants in cancer, especially breast cancer. Of PIK3CA-mutant breast cancers, over half harbor this mutation. Meta-analyses have shown that patients harboring this mutation may have worse overall survival, but other studies have shown no difference between H1047R and other PIK3CA mutants from a prognostic standpoint. While very prevalent, targeted therapies for this particular mutation are still in early clinical trial phases.
Genome browser