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rs80359550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common/normal


Make rs80359550(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340301
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359550
ebirs80359550
HLIrs80359550
Exacrs80359550
Varsomers80359550
Maprs80359550
PheGenIrs80359550
hapmaprs80359550
1000 genomesrs80359550
hgdprs80359550
ensemblrs80359550
gopubmedrs80359550
geneviewrs80359550
scholarrs80359550
googlers80359550
pharmgkbrs80359550
gwascentralrs80359550
openSNPrs80359550
23andMers80359550
23andMe allrs80359550
SNP Nexus

SNPshotrs80359550
SNPdbers80359550
MSV3drs80359550
GWAS Ctlgrs80359550
Max Magnitude6
rs80359550, also known as 6174delT, c.5946_5946delT and p.Ser1982Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.More commonly known as 6174delT, rs80359550 is a mutation in the BRCA2 gene linked to early-onset breast cancer. It is considered a founder mutation in Ashkenazi Jews.

One of the direct-to-consumer genetic testing companies, 23andMe, uses their own name, i4000379, for this SNP.

ClinVar
Risk rs80359550(;)
Alt rs80359550(;)
Reference rs80359550(T;T)
Significance Other
Disease Breast-ovarian cancer Pancreatic cancer 2 Fanconi anemia Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Pancreatic cancer 2 Fanconi anemia, complementation group D1 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914438delT
CLNSRC Breast Cancer Information Core (BRCA2) Inc. OMIM Allelic Variant
CLNACC RCV000009910.15, RCV000009911.3, RCV000009912.3, RCV000034451.7, RCV000044800.8, RCV000129627.3, RCV000212245.2,