rs80359593
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TTAAA) | 6 | Likely miscall in 23andMe v4 data; otherwise, BRCA2 variant considered pathogenic for breast cancer |
(ATTAA;ATTAA) | 0 | common in clinvar |
(TTAAA;TTAAA) | 0 | common in clinvar |
Make rs80359593(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340801 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359593 |
dbSNP (classic) | rs80359593 |
ClinGen | rs80359593 |
ebi | rs80359593 |
HLI | rs80359593 |
Exac | rs80359593 |
Gnomad | rs80359593 |
Varsome | rs80359593 |
LitVar | rs80359593 |
Map | rs80359593 |
PheGenI | rs80359593 |
Biobank | rs80359593 |
1000 genomes | rs80359593 |
hgdp | rs80359593 |
ensembl | rs80359593 |
geneview | rs80359593 |
scholar | rs80359593 |
rs80359593 | |
pharmgkb | rs80359593 |
gwascentral | rs80359593 |
openSNP | rs80359593 |
23andMe | rs80359593 |
SNPshot | rs80359593 |
SNPdbe | rs80359593 |
MSV3d | rs80359593 |
GWAS Ctlg | rs80359593 |
Max Magnitude | 6 |
rs80359593, also known as 6674del5, c.6446_6450delTTAAA and p.Ile2149_Lys2150?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
23andMe name: i5010375
ClinVar | |
---|---|
Risk | rs80359593(-;-) |
Alt | rs80359593(-;-) |
Reference | Rs80359593(ATTAA;ATTAA) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32914938_32914942delTTAAA |
CLNSRC | Breast Cancer Information Core (BRCA2) |
CLNACC | RCV000044955.3, RCV000077376.5, RCV000162931.2, |