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rs397507580

From SNPedia

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


Make rs397507580(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332813
GeneBRCA2
is asnp
is mentioned by
dbSNPrs397507580
dbSNP (classic)rs397507580
ClinGenrs397507580
ebirs397507580
HLIrs397507580
Exacrs397507580
Gnomadrs397507580
Varsomers397507580
LitVarrs397507580
Maprs397507580
PheGenIrs397507580
Biobankrs397507580
1000 genomesrs397507580
hgdprs397507580
ensemblrs397507580
geneviewrs397507580
scholarrs397507580
googlers397507580
pharmgkbrs397507580
gwascentralrs397507580
openSNPrs397507580
23andMers397507580
SNPshotrs397507580
SNPdbers397507580
MSV3drs397507580
GWAS Ctlgrs397507580
Max Magnitude6

aka c.1335_1338delTTTG (p.Leu446fs)

ClinVar
Risk rs397507580(-;-)
Alt rs397507580(-;-)
Reference Rs397507580(TTTG;TTTG)
Significance Untested
Disease Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32906950_32906953delTTTG
CLNSRC ClinVar
CLNACC RCV000043783.2,