chr3:179218304:A>C Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,936,092-178,936,092 View the variant detail on this assembly version. |
| hg38 | chr3:179,218,304-179,218,304 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1634A>C | NP_006209.2:p.Glu545Ala |
| Ensemble | ENST00000263967.4:c.1634A>C | ENST00000263967.4:p.Glu545Ala |
| ENST00000643187.1:c.1634A>C | ENST00000643187.1:p.Glu545Ala |
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
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2013-01-10 | no assertion criteria provided | Cowden syndrome 5 |
germline
|
Detail |
|
Pathogenic
|
2010-12-23 | criteria provided, single submitter | Neoplasm of ovary |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Small cell lung carcinoma |
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 | Malignant melanoma of skin |
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 | gallbladder 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 | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate 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 | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | pancreatic adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung 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 | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
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 brain |
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 |
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 | Nasopharyngeal neoplasm |
somatic
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.129 | ovarian neoplasm | NA | CLINVAR | Detail | |
| 0.240 | Cowden syndrome 5 | NA | CLINVAR | Detail | |
| 0.377 | liver carcinoma | NA | CLINVAR | Detail | |
| 0.241 | NEVUS, EPIDERMAL (disorder) | NA | CLINVAR | Detail | |
| 0.131 | colon carcinoma | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_006218.3(PIK3CA):c.[1634A>C;1658_1659delGTinsC] AND Cowden syndrome 5 | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Neoplasm of ovary | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Small cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Papillary renal cell carcinoma, sporadic | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Gallbladder carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Pancreatic adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Neoplasm of brain | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Brainstem glioma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Carcinoma of esophagus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Nasopharyngeal neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Abnormal cardiovascular system morphology | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs121913274 dbSNP
- Genome
- hg38
- Position
- chr3:179,218,304-179,218,304
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- E545A
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/882
Genome browser