The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Variant: NM_024675.3(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA196418
186990 (ClinVar)
Gene: PALB2
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 2fc9b89e-52aa-42d9-a62b-83460b2bf89b
Approved on: 2023-04-05
Published on: 2023-04-07
HGVS expressions
NM_024675.3:c.2524_2535delinsTCAGA
NM_024675.3(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)
NC_000016.10:g.23629255_23629266delinsTCTGA
CM000678.2:g.23629255_23629266delinsTCTGA
NC_000016.9:g.23640576_23640587delinsTCTGA
CM000678.1:g.23640576_23640587delinsTCTGA
NC_000016.8:g.23548077_23548088delinsTCTGA
NG_007406.1:g.17092_17103delinsTCAGA
ENST00000261584.9:c.2524_2535delinsTCAGA
ENST00000261584.8:c.2524_2535delinsTCAGA
ENST00000565038.1:n.96_107delinsTCAGA
ENST00000568219.5:c.1639_1650delinsTCAGA
NM_024675.4:c.2524_2535delinsTCAGA
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)
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Evidence submitted by expert panel
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