chr3:179234296:C>T Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,952,084-178,952,084 View the variant detail on this assembly version. |
| hg38 | chr3:179,234,296-179,234,296 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.3139C>T | NP_006209.2:p.His1047Tyr |
| Ensemble | ENST00000263967.4:c.3139C>T | ENST00000263967.4:p.His1047Tyr |
| ENST00000643187.1:c.*219C>T |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
colorectal neoplasms, hereditary nonpolyposis |
somatic
|
MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University | ||||
|
Pathogenic
|
other |
germline
|
MGS000073
(TMGS000155) |
Kenjiro Kosaki |
Keio University IRUD |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-03-08 | criteria provided, multiple submitters, no conflicts | Megalencephaly-capillary malformation-polymicrogyria syndrome |
somatic
unknown
|
Detail |
|
Pathogenic
|
2011-03-01 | criteria provided, single submitter | Non-small cell lung carcinoma |
somatic
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | medulloblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Malignant tumor of floor of mouth |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
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 | gastric adenocarcinoma |
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 | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
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 | 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 | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
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 | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2023-10-13 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | epidermal nevus,CLOVES syndrome,Neoplasm of ovary,Neoplasm of stomach,hepatocellular carcinoma,Congenital macrodactylia,Familial cancer of breast,Carcinoma of colon,seborrheic keratosis,Megalencephaly-capillary malformation-polymicrogyria syndrome,Cowden syndrome 5,lung carcinoma,CLAPO syndrome |
unknown
|
Detail |
|
Pathogenic
|
2020-11-30 | criteria provided, multiple submitters, no conflicts | not provided |
germline
somatic
|
Detail |
|
Pathogenic
|
2021-04-06 | criteria provided, single submitter |
somatic
|
Detail | |
|
Pathogenic
|
2021-08-01 | criteria provided, single submitter | CLOVES syndrome |
de novo
|
Detail |
|
Pathogenic
|
2023-10-11 | criteria provided, multiple submitters, no conflicts | PIK3CA related overgrowth syndrome |
de novo
somatic
|
Detail |
|
Pathogenic
|
2012-06-24 | no assertion criteria provided | HEMIFACIAL MYOHYPERPLASIA, SOMATIC |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.137 | Non-small cell lung carcinoma | NA | CLINVAR | Detail | |
| <0.001 | Oropharyngeal disorders | PIK3CA mutations were identified by Sanger sequencing in 23 of 75 (31%) HPV-posi... | BeFree | 24341335 | Detail |
| 0.360 | Megalencephaly cutis marmorata telangiectatica congenita | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Megalencephaly-capillary malformation-polymicrogyri... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Medulloblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Malignant tumor of floor of mouth | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Neoplasm of brain | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Brainstem glioma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Cowden syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Segmental undergrowth associated with mainly venous... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND CLOVES syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND PIK3CA related overgrowth syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND HEMIFACIAL MYOHYPERPLASIA, SOMATIC | ClinVar | Detail |
| NA | DisGeNET | Detail |
| PIK3CA mutations were identified by Sanger sequencing in 23 of 75 (31%) HPV-positive oropharyngeal c... | DisGeNET | Detail |
| NA | 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
- rs121913281 dbSNP
- Genome
- hg38
- Position
- chr3:179,234,296-179,234,296
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- H1047Y
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/938
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