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rs80359371

From SNPedia

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


Make rs80359371(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337515
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359371
ebirs80359371
HLIrs80359371
Exacrs80359371
Varsomers80359371
Maprs80359371
PheGenIrs80359371
hapmaprs80359371
1000 genomesrs80359371
hgdprs80359371
ensemblrs80359371
gopubmedrs80359371
geneviewrs80359371
scholarrs80359371
googlers80359371
pharmgkbrs80359371
gwascentralrs80359371
openSNPrs80359371
23andMers80359371
23andMe allrs80359371
SNP Nexus

SNPshotrs80359371
SNPdbers80359371
MSV3drs80359371
GWAS Ctlgrs80359371
Max Magnitude6
rs80359371, also known as 3388del4, c.3160_3163delGATA and p.Asp1054_Asn1055?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359371(;)
Alt rs80359371(;)
Reference rs80359371(TAGA;TAGA)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32911652_32911655delGATA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031405.5, RCV000044133.2, RCV000162917.1,