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_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA298357
181996 (ClinVar)
Gene: ATM
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: afccc577-2d42-4940-8bb7-bbf0b5ea06e3
Approved on: 2024-01-25
Published on: 2024-02-14
HGVS expressions
NM_000051.4:c.4394T>C
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
NC_000011.10:g.108289759T>C
CM000673.2:g.108289759T>C
NC_000011.9:g.108160486T>C
CM000673.1:g.108160486T>C
NC_000011.8:g.107665696T>C
NG_009830.1:g.71928T>C
ENST00000452508.7:c.4394T>C
ENST00000713593.1:c.*3865T>C
ENST00000278616.9:c.4394T>C
ENST00000533733.6:n.1657T>C
ENST00000683174.1:n.4544T>C
ENST00000527805.6:c.4394T>C
ENST00000675595.1:c.4229T>C
ENST00000675843.1:c.4394T>C
ENST00000278616.8:c.4394T>C
ENST00000452508.6:c.4394T>C
ENST00000524792.5:n.609T>C
ENST00000531525.2:c.401T>C
ENST00000533733.5:n.823T>C
NM_000051.3:c.4394T>C
NM_001351834.1:c.4394T>C
NM_001351834.2:c.4394T>C
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Evidence submitted by expert panel
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