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rs80359305

From SNPedia

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


Make rs80359305(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333251
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359305
ebirs80359305
HLIrs80359305
Exacrs80359305
Varsomers80359305
Maprs80359305
PheGenIrs80359305
hapmaprs80359305
1000 genomesrs80359305
hgdprs80359305
ensemblrs80359305
gopubmedrs80359305
geneviewrs80359305
scholarrs80359305
googlers80359305
pharmgkbrs80359305
gwascentralrs80359305
openSNPrs80359305
23andMers80359305
23andMe allrs80359305
SNP Nexus

SNPshotrs80359305
SNPdbers80359305
MSV3drs80359305
GWAS Ctlgrs80359305
Max Magnitude6
rs80359305, also known as 2001del4, c.1773_1776delTTAT and p.Ile591_Tyr592?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359305(;)
Alt rs80359305(;)
Reference rs80359305(TTTA;TTTA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32907388_32907391delTTAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043880.4, RCV000112966.2, RCV000160268.1, RCV000213388.1,