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rs80359308

From SNPedia

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


Make rs80359308(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333291
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359308
ebirs80359308
HLIrs80359308
Exacrs80359308
Varsomers80359308
Maprs80359308
PheGenIrs80359308
hapmaprs80359308
1000 genomesrs80359308
hgdprs80359308
ensemblrs80359308
gopubmedrs80359308
geneviewrs80359308
scholarrs80359308
googlers80359308
pharmgkbrs80359308
gwascentralrs80359308
openSNPrs80359308
23andMers80359308
23andMe allrs80359308
SNP Nexus

SNPshotrs80359308
SNPdbers80359308
MSV3drs80359308
GWAS Ctlgrs80359308
Max Magnitude6
rs80359308, also known as 2041insA, c.1813_1814insA and p.Ile605?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359308(AA,AC;AA,AC)
Alt rs80359308(AA,AC;AA,AC)
Reference rs80359308(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32907428_32907429insC; NC_000013.10:g.32907428dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043895.2, RCV000031343.11, RCV000043897.6, RCV000131453.2, RCV000160269.2,