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rs80359376

From SNPedia

Merged intors80359375
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TAAT) 6 BRCA2 variant considered pathogenic for breast cancer
(AATT;AATT) 0 common in clinvar
(TAAT;TAAT) 0 common in clinvar


Make rs80359376(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337550
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359376
dbSNP (classic)rs80359376
ClinGenrs80359376
ebirs80359376
HLIrs80359376
Exacrs80359376
Gnomadrs80359376
Varsomers80359376
LitVarrs80359376
Maprs80359376
PheGenIrs80359376
Biobankrs80359376
1000 genomesrs80359376
hgdprs80359376
ensemblrs80359376
geneviewrs80359376
scholarrs80359376
googlers80359376
pharmgkbrs80359376
gwascentralrs80359376
openSNPrs80359376
23andMers80359376
SNPshotrs80359376
SNPdbers80359376
MSV3drs80359376
GWAS Ctlgrs80359376
StatusMerged into rs80359375
Max Magnitude6

rs80359376, also known as 3423del4, c.3195_3198delTAAT and p.Ile1065_Asn1066?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference Rs80359376(AATT;AATT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911687_32911690delTAAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044143.3, RCV000113145.4,