chr3:179218306:C>G Detail (hg38) (PIK3CA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:178,936,094-178,936,094 View the variant detail on this assembly version. |
| hg38 | chr3:179,218,306-179,218,306 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006218.3:c.1636C>G | NP_006209.2:p.Gln546Glu |
| Ensemble | ENST00000263967.4:c.1636C>G | ENST00000263967.4:p.Gln546Glu |
| ENST00000643187.1:c.1636C>G | ENST00000643187.1:p.Gln546Glu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2004-11-01 | no assertion criteria provided | breast adenocarcinoma |
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 | Neoplasm of uterine cervix |
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 |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
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 | medulloblastoma |
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 | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | breast adenocarcinoma | NA | CLINVAR | Detail | |
| 0.131 | colon carcinoma | NA | CLINVAR | Detail | |
| 0.128 | Epithelial ovarian cancer | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Breast adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Glioblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Breast neoplasm | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Neoplasm of brain | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Medulloblastoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) AND Prostate adenocarcinoma | ClinVar | 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
- rs121913286 dbSNP
- Genome
- hg38
- Position
- chr3:179,218,306-179,218,306
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- Q546E
- Transcript 1 (CIViC Variant)
- ENST00000263967.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/886
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