chr3:179210192:T>C Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,927,980-178,927,980 View the variant detail on this assembly version. |
| hg38 | chr3:179,210,192-179,210,192 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1258T>C | NP_006209.2:p.Cys420Arg |
| Ensemble | ENST00000263967.4:c.1258T>C | ENST00000263967.4:p.Cys420Arg |
| ENST00000643187.1:c.1258T>C | ENST00000643187.1:p.Cys420Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
criteria provided, single submitter | CLOVES syndrome |
somatic
unknown
|
Detail | |
|
Pathogenic
|
2010-10-08 | criteria provided, single submitter | Neoplasm of ovary |
somatic
|
Detail |
|
Pathogenic
|
2014-04-23 | no assertion criteria provided | PIK3CA related overgrowth syndrome |
somatic
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | adenoid cystic carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric 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 | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2021-10-01 | criteria provided, single submitter | CLAPO syndrome |
germline
somatic
unknown
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
somatic
|
Detail | ||
|
Pathogenic
|
criteria provided, single submitter | Capillary malformation |
somatic
|
Detail | |
|
Pathogenic
|
2021-04-06 | criteria provided, single submitter |
somatic
|
Detail | |
|
Pathogenic
|
2024-01-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
somatic
|
Detail |
|
Pathogenic
|
2023-12-12 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2024-03-19 | no assertion criteria provided | Rare combined vascular malformation |
somatic
|
Detail |
CIViC
[No Data.]
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND CLOVES syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Neoplasm of ovary | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND PIK3CA related overgrowth syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Adenoid cystic carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND CLAPO syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Abnormal cardiovascular system morphology | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Capillary malformation | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Segmental undergrowth associated with lymphatic malf... | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Cowden syndrome | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND Rare combined vascular malformation | ClinVar | Detail |
| NA | 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
- rs121913272 dbSNP
- Genome
- hg38
- Position
- chr3:179,210,192-179,210,192
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- C420R
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/931
Genome browser