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rs80359523

From SNPedia

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


Make rs80359523(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339940
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359523
ebirs80359523
HLIrs80359523
Exacrs80359523
Varsomers80359523
Maprs80359523
PheGenIrs80359523
hapmaprs80359523
1000 genomesrs80359523
hgdprs80359523
ensemblrs80359523
gopubmedrs80359523
geneviewrs80359523
scholarrs80359523
googlers80359523
pharmgkbrs80359523
gwascentralrs80359523
openSNPrs80359523
23andMers80359523
23andMe allrs80359523
SNP Nexus

SNPshotrs80359523
SNPdbers80359523
MSV3drs80359523
GWAS Ctlgrs80359523
Max Magnitude6
rs80359523, also known as 5813del4, c.5585_5588delTGAA and p.Val1862_Lys1863?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359523(;)
Alt rs80359523(;)
Reference rs80359523(TGAA;TGAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914077_32914080delTGAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044688.2, RCV000077354.4, RCV000162925.1, RCV000223488.1,