Have questions? Visit https://www.reddit.com/r/SNPedia

rs276174846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ATTAGC;ATTAGC) 0 common in clinvar
(G;ATTAGC) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs276174846(ATTAGC;G)
Make rs276174846(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339086
GeneBRCA2
is asnp
is mentioned by
dbSNPrs276174846
ebirs276174846
HLIrs276174846
Exacrs276174846
Varsomers276174846
Maprs276174846
PheGenIrs276174846
hapmaprs276174846
1000 genomesrs276174846
hgdprs276174846
ensemblrs276174846
gopubmedrs276174846
geneviewrs276174846
scholarrs276174846
googlers276174846
pharmgkbrs276174846
gwascentralrs276174846
openSNPrs276174846
23andMers276174846
23andMe allrs276174846
SNP Nexus

SNPshotrs276174846
SNPdbers276174846
MSV3drs276174846
GWAS Ctlgrs276174846
Max Magnitude6
rs276174846, also known as 4959del6insG, c.4731_4736delATTAGCinsG and p.Glu1577_Ala1579?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs276174846(G;G)
Alt rs276174846(G;G)
Reference rs276174846(ATTAGC;ATTAGC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32913223_32913228delATTAGCinsG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044478.2, RCV000113338.1, RCV000223243.1,