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rs80359354

From SNPedia

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


Make rs80359354(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337167
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359354
ebirs80359354
HLIrs80359354
Exacrs80359354
Varsomers80359354
Maprs80359354
PheGenIrs80359354
hapmaprs80359354
1000 genomesrs80359354
hgdprs80359354
ensemblrs80359354
gopubmedrs80359354
geneviewrs80359354
scholarrs80359354
googlers80359354
pharmgkbrs80359354
gwascentralrs80359354
openSNPrs80359354
23andMers80359354
23andMe allrs80359354
SNP Nexus

SNPshotrs80359354
SNPdbers80359354
MSV3drs80359354
GWAS Ctlgrs80359354
Max Magnitude6
rs80359354, also known as 3040del4, c.2812_2815delGCAA and p.Ala938_Thr939?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359354(;)
Alt rs80359354(;)
Reference rs80359354(CAAG;CAAG)
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.32911304_32911307delGCAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044066.3, RCV000083093.3,