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rs80359450

From SNPedia

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


Make rs80359450(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338811
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359450
ebirs80359450
HLIrs80359450
Exacrs80359450
Varsomers80359450
Maprs80359450
PheGenIrs80359450
hapmaprs80359450
1000 genomesrs80359450
hgdprs80359450
ensemblrs80359450
gopubmedrs80359450
geneviewrs80359450
scholarrs80359450
googlers80359450
pharmgkbrs80359450
gwascentralrs80359450
openSNPrs80359450
23andMers80359450
23andMe allrs80359450
SNP Nexus

SNPshotrs80359450
SNPdbers80359450
MSV3drs80359450
GWAS Ctlgrs80359450
Max Magnitude6
rs80359450, also known as 4684del4, c.4456_4459delGTTA and p.Val1486_Lys1487?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359450(;)
Alt rs80359450(;)
Reference rs80359450(TAGT;TAGT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912948_32912951delGTTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044417.4, RCV000083106.4, RCV000212235.1, RCV000222405.1,