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rs80359304

From SNPedia

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


Make rs80359304(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32333250
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359304
ebirs80359304
HLIrs80359304
Exacrs80359304
Varsomers80359304
Maprs80359304
PheGenIrs80359304
hapmaprs80359304
1000 genomesrs80359304
hgdprs80359304
ensemblrs80359304
gopubmedrs80359304
geneviewrs80359304
scholarrs80359304
googlers80359304
pharmgkbrs80359304
gwascentralrs80359304
openSNPrs80359304
23andMers80359304
23andMe allrs80359304
SNP Nexus

SNPshotrs80359304
SNPdbers80359304
MSV3drs80359304
GWAS Ctlgrs80359304
Max Magnitude6
rs80359304, also known as 2000del4, c.1772_1775delTTTA and p.Ile591_Tyr592?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359304(;)
Alt rs80359304(;)
Reference rs80359304(TTTA;TTTA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32907388_32907391delTTAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043880.4, RCV000112966.2, RCV000160268.1, RCV000213388.1,