The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computer assertion could be determined for this classification!
Variant: NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
CA023403
9325 (ClinVar)
Gene: BRCA2
Condition: BRCA2-related cancer predisposition
Inheritance Mode: Autosomal dominant inheritance
UUID: 8c8c6973-0686-4b0b-afb5-db5e988a2e83
Approved on: 2024-06-12
Published on: 2024-06-12
HGVS expressions
NM_000059.4:c.5946del
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
NC_000013.11:g.32340301del
CM000675.2:g.32340301del
NC_000013.10:g.32914438del
CM000675.1:g.32914438del
NC_000013.9:g.31812438del
NG_012772.3:g.29822del
ENST00000470094.2:c.5946del
ENST00000528762.2:c.5946del
ENST00000530893.7:c.5577del
ENST00000665585.2:c.5946del
ENST00000666593.2:c.5946del
ENST00000700202.2:c.5946del
ENST00000380152.8:c.5946del
ENST00000544455.6:c.5946del
ENST00000614259.2:c.5946del
ENST00000680887.1:c.5946del
ENST00000380152.7:c.5946del
ENST00000544455.5:c.5946del
ENST00000614259.1:n.5946del
NM_000059.3:c.5946del
Evidence submitted by expert panel
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