chr3:179218307:A>G Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,936,095-178,936,095 View the variant detail on this assembly version. |
| hg38 | chr3:179,218,307-179,218,307 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1637A>G | NP_006209.2:p.Gln546Arg |
| Ensemble | ENST00000263967.4:c.1637A>G | ENST00000263967.4:p.Gln546Arg |
| ENST00000643187.1:c.1637A>G | ENST00000643187.1:p.Gln546Arg |
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
|
2010-08-10 | criteria provided, single submitter | Neoplasm of ovary |
somatic
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
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 | 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 | uterine carcinosarcoma |
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 | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
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 | medulloblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
somatic
|
Detail | ||
|
Pathogenic
|
2021-02-04 | criteria provided, single submitter | not provided |
somatic
|
Detail |
|
Pathogenic
|
2023-08-09 | criteria provided, single submitter | PIK3CA related overgrowth syndrome |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.129 | ovarian neoplasm | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Neoplasm of ovary | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Medulloblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Neoplasm of brain | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND Abnormal cardiovascular system morphology | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND not provided | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) AND PIK3CA related overgrowth syndrome | ClinVar | 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
- rs397517201 dbSNP
- Genome
- hg38
- Position
- chr3:179,218,307-179,218,307
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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