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 computed assertion could be determined for this classification!
Variant: NM_000051.4(ATM):c.1158del (p.Lys387fs)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA166706
141887 (ClinVar)
Gene: ATM
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 991ad4c9-4e94-4c78-8e40-cdb3f5284040
Approved on: 2024-01-25
Published on: 2024-02-14
HGVS expressions
NM_000051.4:c.1158del
NM_000051.4(ATM):c.1158del (p.Lys387fs)
NC_000011.10:g.108249025del
CM000673.2:g.108249025del
NC_000011.9:g.108119752del
CM000673.1:g.108119752del
NC_000011.8:g.107624962del
NG_009830.1:g.31194del
ENST00000452508.7:c.1158del
ENST00000713593.1:c.*629del
ENST00000278616.9:c.1158del
ENST00000682516.1:n.1292del
ENST00000682956.1:n.1292del
ENST00000683174.1:n.1308del
ENST00000683605.1:n.653del
ENST00000684037.1:c.*93del
ENST00000684061.1:n.1292del
ENST00000684179.1:n.1127del
ENST00000527805.6:c.1158del
ENST00000675595.1:c.993del
ENST00000675843.1:c.1158del
ENST00000278616.8:c.1158del
ENST00000452508.6:c.1158del
ENST00000527805.5:c.1158del
NM_000051.3:c.1158del
NM_001351834.1:c.1158del
NM_001351834.2:c.1158del
More
Evidence submitted by expert panel
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