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rs80359585

From SNPedia

Merged intors80359584
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CTTAA) 6 BRCA2 variant considered pathogenic for breast cancer
(CTTAA;CTTAA) 0 common in clinvar
(TAACT;TAACT) 0 common in clinvar


Make rs80359585(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340760
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359585
dbSNP (classic)rs80359585
ClinGenrs80359585
ebirs80359585
HLIrs80359585
Exacrs80359585
Gnomadrs80359585
Varsomers80359585
LitVarrs80359585
Maprs80359585
PheGenIrs80359585
Biobankrs80359585
1000 genomesrs80359585
hgdprs80359585
ensemblrs80359585
geneviewrs80359585
scholarrs80359585
googlers80359585
pharmgkbrs80359585
gwascentralrs80359585
openSNPrs80359585
23andMers80359585
SNPshotrs80359585
SNPdbers80359585
MSV3drs80359585
GWAS Ctlgrs80359585
StatusMerged into rs80359584
Max Magnitude6

rs80359585, also known as 6633del5, c.6405_6409delCTTAA and p.Asn2135_Asn2137?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference Rs80359585(TAACT;TAACT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Breast cancer
Reversed 0
HGVS NC_000013.10:g.32914897_32914901delCTTAA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031625.9, RCV000044934.7, RCV000160301.2, RCV000162930.3, RCV000240801.1,