rs80358547
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(T;T) | 0 | common in clinvar |
Make rs80358547(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32316462 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358547 |
dbSNP (classic) | rs80358547 |
ClinGen | rs80358547 |
ebi | rs80358547 |
HLI | rs80358547 |
Exac | rs80358547 |
Gnomad | rs80358547 |
Varsome | rs80358547 |
LitVar | rs80358547 |
Map | rs80358547 |
PheGenI | rs80358547 |
Biobank | rs80358547 |
1000 genomes | rs80358547 |
hgdp | rs80358547 |
ensembl | rs80358547 |
geneview | rs80358547 |
scholar | rs80358547 |
rs80358547 | |
pharmgkb | rs80358547 |
gwascentral | rs80358547 |
openSNP | rs80358547 |
23andMe | rs80358547 |
SNPshot | rs80358547 |
SNPdbe | rs80358547 |
MSV3d | rs80358547 |
GWAS Ctlg | rs80358547 |
Max Magnitude | 6 |
rs80358547 represents either a c.2T>G (p.Met1Arg) or a c.2T>C (p.Met1Thr) mutation in the BRCA2 gene.
Both are considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80358547(C;C) rs80358547(G;G) |
Alt | rs80358547(C;C) rs80358547(G;G) |
Reference | Rs80358547(T;T) |
Significance | Pathogenic |
Disease | Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer |
Variation | info |
Gene | BRCA2 |
CLNDBN | Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 |
Reversed | 0 |
HGVS | NC_000013.10:g.32890599T>C; NC_000013.10:g.32890599T>G |
CLNSRC | ClinVar Ambry Genetics |
CLNACC | RCV000044101.2, RCV000165930.1, RCV000044102.3, RCV000113010.1, RCV000131870.2, |