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rs80359516

From SNPedia

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


Make rs80359516(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339837
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359516
ebirs80359516
HLIrs80359516
Exacrs80359516
Varsomers80359516
Maprs80359516
PheGenIrs80359516
hapmaprs80359516
1000 genomesrs80359516
hgdprs80359516
ensemblrs80359516
gopubmedrs80359516
geneviewrs80359516
scholarrs80359516
googlers80359516
pharmgkbrs80359516
gwascentralrs80359516
openSNPrs80359516
23andMers80359516
23andMe allrs80359516
SNP Nexus

SNPshotrs80359516
SNPdbers80359516
MSV3drs80359516
GWAS Ctlgrs80359516
Max Magnitude6
rs80359516, also known as 5710del5, c.5482_5486delAAATT and p.Lys1828_Leu1829?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359516(;)
Alt rs80359516(;)
Reference rs80359516(ATTAA;ATTAA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913974_32913978delAAATT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000034446.1, RCV000044670.2, RCV000083118.3, RCV000162924.1,