chr3:179218294:G>A Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,936,082-178,936,082 View the variant detail on this assembly version. |
| hg38 | chr3:179,218,294-179,218,294 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1624G>A | NP_006209.2:p.Glu542Lys |
| Ensemble | ENST00000263967.4:c.1624G>A | ENST00000263967.4:p.Glu542Lys |
| ENST00000643187.1:c.1624G>A | ENST00000643187.1:p.Glu542Lys |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
other
|
| Variant entry | 7 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
other
|
2017/04/10 | carcinoma, non-small-cell lung |
somatic
|
MGS000014
(TMGS000028) |
Kohei Miyazono | Tokyo University | |||
|
Pathogenic
|
2018/01/11 | colon cancer |
somatic
|
MGS000017
(TMGS000052) |
Kohei Miyazono | Tokyo University | |||
|
Likely pathogenic
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University | ||||
|
Likely pathogenic
|
salivary gland neoplasms |
somatic
|
MGS000044
(TMGS000097) |
Kohei Miyazono | Tokyo University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
Likely pathogenic
|
2024-03-19 | no assertion criteria provided | CLOVES syndrome |
somatic
not provided
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2023-02-27 | criteria provided, multiple submitters, no conflicts | not provided |
germline
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Carcinoma of esophagus |
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 | Neoplasm of brain |
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 | prostate adenocarcinoma |
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 | Small cell lung carcinoma |
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 | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma, sporadic |
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 | lung adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2012-06-08 | no assertion criteria provided | CLAPO syndrome |
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
|
2012-06-08 | no assertion criteria provided | CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC |
somatic
|
Detail |
|
Pathogenic
|
2021-09-30 | no assertion criteria provided | Cerebrofacial Vascular Metameric Syndrome (CVMS) |
somatic
|
Detail |
|
Pathogenic
|
2022-02-12 | reviewed by expert panel | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes |
germline
|
Detail |
|
Pathogenic
|
2022-10-27 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-11-03 | criteria provided, single submitter | PIK3CA related overgrowth syndrome |
somatic
|
Detail |
|
Pathogenic
|
2012-06-08 | no assertion criteria provided | HEMIFACIAL MYOHYPERPLASIA, SOMATIC |
somatic
|
Detail |
not provided
|
no assertion provided | PIK3CA-related overgrowth |
unknown
|
Detail | |
|
Likely pathogenic
|
2024-03-19 | no assertion criteria provided | Rare venous malformation |
somatic
|
Detail |
|
Pathogenic
|
2024-01-03 | criteria provided, single submitter | PIK3CA-related disorder |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| head and neck squamous cell carcinoma | Apitolisib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 26787751 | Detail |
| thyroid cancer | Perifosine,Temsirolimus | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 19706758 | Detail |
| colorectal cancer | Panitumumab,Cetuximab | B |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 19223544 | Detail |
| breast cancer | PI3K-alpha Inhibitor MEN1611 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 21558396 | Detail |
| breast cancer | Sirolimus | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 15647370 | Detail |
| colorectal cancer | E |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 2 | 22357840 | Detail | |
| colorectal cancer | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 3 | 19223544 | Detail | |
| breast cancer | Alpelisib,Fulvestrant | A |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 31091374 | Detail |
| colorectal cancer | Regorafenib | B |
Predictive
|
Does Not Support
|
N/A | Somatic | 4 | 24559322 | 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 |
| <0.001 | Undifferentiated (Embryonal) Sarcoma | Our results revealed 2 mutations in 2 recurrent lesion samples, including one in... | BeFree | 25120743 | Detail |
| <0.001 | Undifferentiated (Embryonal) Sarcoma | Our results revealed 2 mutations in 2 recurrent lesion samples, including one in... | BeFree | 25120743 | 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 | Oropharyngeal disorders | PIK3CA mutations were identified by Sanger sequencing in 23 of 75 (31%) HPV-posi... | BeFree | 24341335 | Detail |
| 0.001 | cholangiocarcinoma | PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), ... | BeFree | 18181165 | Detail |
| 0.240 | Malignant neoplasm of breast | This study proposed to investigate the relationship of PIK3CA somatic mutations,... | BeFree | 25027743 | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Phase 1 study with the dual PI3K/mTOR inhibitor apitolisib. 120 patients were treated at doses betwe... | CIViC Evidence | Detail |
| Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathwa... | CIViC Evidence | Detail |
| The presence of a PIK3CA mutation in exon 9 (such as E542K) or exon 20 were associated with lack of ... | CIViC Evidence | Detail |
| Breast cancer cell lines with E542K/E545K mutations showed increased sensitivity to CH5132799 than c... | CIViC Evidence | Detail |
| Rapamycin inhibits transformation induced by mutation in PIK3CA. | CIViC Evidence | Detail |
| Coexistence of exon 9 (E542K or E545K) and exon 20 mutations but not either alone, is prognostic for... | CIViC Evidence | Detail |
| The presence of exon 9 (such as E542K) or exon 20 mutations were associated with poorer survival com... | CIViC Evidence | Detail |
| In a phase 3 trial, 572 patients with hormone receptor positive, HER2 receptor negative advanced bre... | CIViC Evidence | Detail |
| PIK3CA mutation status was not predictive of response to regorafenib treatment in patients that had ... | CIViC Evidence | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND CLOVES syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Neoplasm of ovary | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Neoplasm of brain | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Small cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND CLAPO syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Lip and oral cavity carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Abnormal cardiovascular system morphology | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Cerebrofacial Vascular Metameric Syndrome (CVMS) | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Overgrowth syndrome and/or cerebral malformations du... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Cowden syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND PIK3CA related overgrowth syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND HEMIFACIAL MYOHYPERPLASIA, SOMATIC | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND PIK3CA-related overgrowth | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Rare venous malformation | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND PIK3CA-related disorder | 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 |
| Our results revealed 2 mutations in 2 recurrent lesion samples, including one in exon 11 of the KIT ... | DisGeNET | Detail |
| Our results revealed 2 mutations in 2 recurrent lesion samples, including one in exon 11 of the KIT ... | 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 mutations were identified by Sanger sequencing in 23 of 75 (31%) HPV-positive oropharyngeal c... | DisGeNET | Detail |
| PIK3CA missense mutations were found in one of 11 intrahepatic CCA (E545K, 9%), one of 23 gallbladde... | 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 |
| 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 |
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
- rs121913273 dbSNP
- Genome
- hg38
- Position
- chr3:179,218,294-179,218,294
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- E542K
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/103
- Summary (CIViC Variant)
- PIK3CA E545K/E542K variants are the second most recurrent PIK3CA mutations in breast cancer and are highly recurrent mutations in many other cancer types. Colorectal cancer patients with the PIK3CA E545K variant, and possibly other variants in the E545 region, may indicate poor prognosis relative to patients with other PIK3CA variants or wild-type PIK3CA. The literature also suggests that E545/E542 variants may confer resistance to EGFR inhibitors (e.g., cetuximab). An FDA approved treatment regimen including a targeted PIK3CA inhibitor is available for specific subtypes of breast cancer. While PIK3CA variants are highly prevalent in many other cancer types, targeted therapies for PIK3CA variants are still in early clinical trial phases in other cancer types.
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