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rs80359279

From SNPedia

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


Make rs80359279(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332787
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359279
ebirs80359279
HLIrs80359279
Exacrs80359279
Varsomers80359279
Maprs80359279
PheGenIrs80359279
hapmaprs80359279
1000 genomesrs80359279
hgdprs80359279
ensemblrs80359279
gopubmedrs80359279
geneviewrs80359279
scholarrs80359279
googlers80359279
pharmgkbrs80359279
gwascentralrs80359279
openSNPrs80359279
23andMers80359279
23andMe allrs80359279
SNP Nexus

SNPshotrs80359279
SNPdbers80359279
MSV3drs80359279
GWAS Ctlgrs80359279
Max Magnitude6
rs80359279, also known as 1537del4, c.1309_1312delAAAG and p.Lys437_Asp438?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359279(;)
Alt rs80359279(;)
Reference rs80359279(AAAG;AAAG)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32906925_32906928delAAGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031318.10, RCV000043779.6, RCV000131062.2, RCV000203644.2,