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rs80359435

From SNPedia

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


Make rs80359435(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338573
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359435
dbSNP (classic)rs80359435
ClinGenrs80359435
ebirs80359435
HLIrs80359435
Exacrs80359435
Gnomadrs80359435
Varsomers80359435
LitVarrs80359435
Maprs80359435
PheGenIrs80359435
Biobankrs80359435
1000 genomesrs80359435
hgdprs80359435
ensemblrs80359435
geneviewrs80359435
scholarrs80359435
googlers80359435
pharmgkbrs80359435
gwascentralrs80359435
openSNPrs80359435
23andMers80359435
SNPshotrs80359435
SNPdbers80359435
MSV3drs80359435
GWAS Ctlgrs80359435
Max Magnitude6

rs80359435, also known as 4446del4, c.4218_4221delAGAA and p.Lys1406_Glu1407?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359435(-;-)
Alt rs80359435(-;-)
Reference Rs80359435(AAAG;AAAG)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32912710_32912713delAGAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044372.3, RCV000113285.2,