rs80359035
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
(C;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
Make rs80359035(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32363211 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359035 |
dbSNP (classic) | rs80359035 |
ClinGen | rs80359035 |
ebi | rs80359035 |
HLI | rs80359035 |
Exac | rs80359035 |
Gnomad | rs80359035 |
Varsome | rs80359035 |
LitVar | rs80359035 |
Map | rs80359035 |
PheGenI | rs80359035 |
Biobank | rs80359035 |
1000 genomes | rs80359035 |
hgdp | rs80359035 |
ensembl | rs80359035 |
geneview | rs80359035 |
scholar | rs80359035 |
rs80359035 | |
pharmgkb | rs80359035 |
gwascentral | rs80359035 |
openSNP | rs80359035 |
23andMe | rs80359035 |
SNPshot | rs80359035 |
SNPdbe | rs80359035 |
MSV3d | rs80359035 |
GWAS Ctlg | rs80359035 |
Max Magnitude | 6 |
aka c.8009C>T (p.Ser2670Leu), as well as c.8009C>A (p.Ser2670Ter) and c.8009C>G (p.Ser2670Trp)
c.8009C>T and c.8009C>A are both classified as BRCA2 gene pathogenic mutations for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]
ClinVar | |
---|---|
Risk | rs80359035(A;A) rs80359035(T;T) |
Alt | rs80359035(A;A) rs80359035(T;T) |
Reference | Rs80359035(C;C) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer, familial 1 |
Reversed | 0 |
HGVS | NC_000013.10:g.32937348C>A; NC_000013.10:g.32937348C>T |
CLNSRC | ClinVar Ambry Genetics |
CLNACC | RCV000045384.2, RCV000239017.2, RCV000045385.5, RCV000077423.3, RCV000131082.3, RCV000212267.2, RCV000409052.1, |