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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- Gene label mismatch: ATM vs undefined
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- Despite there being a valid 'cspec' property in the messages there's a discrepancy in message contents and CSPEC data: * Message Gene: ATM CSPEC Genes: [ 'ATM' ] * Message MONDOs: MONDO:0700270 CSPEC MONDO: [ 'MONDO:0016419', 'MONDO:0008840', 'MONDO:0018266' ]
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA165116
141325 (ClinVar)
Gene: ATM
Condition: ATM-related cancer predisposition
Inheritance Mode: Autosomal dominant inheritance
UUID: b6231ea6-49a8-4c30-85f7-eee53908086c
Approved on: 2025-06-11
Published on: 2025-07-10
HGVS expressions
NM_000051.4:c.2284_2285del
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
NC_000011.10:g.108257514_108257515del
CM000673.2:g.108257514_108257515del
NC_000011.9:g.108128241_108128242del
CM000673.1:g.108128241_108128242del
NC_000011.8:g.107633451_107633452del
NG_009830.1:g.39683_39684del
ENST00000452508.7:c.2284_2285del
ENST00000713593.1:c.*1755_*1756del
ENST00000278616.9:c.2284_2285del
ENST00000682516.1:n.2418_2419del
ENST00000683174.1:n.2434_2435del
ENST00000683605.1:n.1779_1780del
ENST00000684037.1:c.*1219_*1220del
ENST00000527805.6:c.2284_2285del
ENST00000675595.1:c.2119_2120del
ENST00000675843.1:c.2284_2285del
ENST00000278616.8:c.2284_2285del
ENST00000452508.6:c.2284_2285del
ENST00000527805.5:c.2284_2285del
NM_000051.3:c.2284_2285del
NM_001351834.1:c.2284_2285del
NM_001351834.2:c.2284_2285del
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Evidence submitted by expert panel
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