rs80358815
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | Likely miscall in Ancestry data; otherwise, BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
(C;G) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80358815(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340219 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358815 |
dbSNP (classic) | rs80358815 |
ClinGen | rs80358815 |
ebi | rs80358815 |
HLI | rs80358815 |
Exac | rs80358815 |
Gnomad | rs80358815 |
Varsome | rs80358815 |
LitVar | rs80358815 |
Map | rs80358815 |
PheGenI | rs80358815 |
Biobank | rs80358815 |
1000 genomes | rs80358815 |
hgdp | rs80358815 |
ensembl | rs80358815 |
geneview | rs80358815 |
scholar | rs80358815 |
rs80358815 | |
pharmgkb | rs80358815 |
gwascentral | rs80358815 |
openSNP | rs80358815 |
23andMe | rs80358815 |
SNPshot | rs80358815 |
SNPdbe | rs80358815 |
MSV3d | rs80358815 |
GWAS Ctlg | rs80358815 |
Max Magnitude | 6 |
rs80358815, also known as S1955X, c.5864C>A and p.Ser1955Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80358815(A;A) rs80358815(G;G) rs80358815(T;T) |
Alt | rs80358815(A;A) rs80358815(G;G) rs80358815(T;T) |
Reference | Rs80358815(C;C) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Familial cancer of breast |
Reversed | 0 |
HGVS | NC_000013.10:g.32914356C>A; NC_000013.10:g.32914356C>G; NC_000013.10:g.32914356C>T |
CLNSRC | ClinVar Ambry Genetics |
CLNACC | RCV000044777.4, RCV000077364.7, RCV000162927.2, RCV000221022.2, RCV000044778.2, RCV000131666.2, RCV000241225.1, RCV000476307.1, |