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rs80359319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TC) 6 BRCA2 variant considered pathogenic for breast cancer
(TC;TC) 0 common in clinvar


Make rs80359319(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336404
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359319
dbSNP (old)rs80359319
ClinGenrs80359319
ebirs80359319
HLIrs80359319
Exacrs80359319
Gnomadrs80359319
Varsomers80359319
Maprs80359319
PheGenIrs80359319
Biobankrs80359319
1000 genomesrs80359319
hgdprs80359319
ensemblrs80359319
gopubmedrs80359319
geneviewrs80359319
scholarrs80359319
googlers80359319
pharmgkbrs80359319
gwascentralrs80359319
openSNPrs80359319
23andMers80359319
23andMe allrs80359319
SNP Nexus

SNPshotrs80359319
SNPdbers80359319
MSV3drs80359319
GWAS Ctlgrs80359319
Max Magnitude6
rs80359319, also known as 2277delTC, c.2049_2050delTC and p.Ser683_Gln684SerGlyfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359319(-;-)
Alt rs80359319(-;-)
Reference Rs80359319(TC;TC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32910541_32910542delTC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043938.2, RCV000113008.3,