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_000051.3(ATM):c.6995T>C (p.Leu2332Pro)
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA157165
133631 (ClinVar)
Gene: ATM
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: d85e41f7-7a25-4f0c-b2eb-530a536f48f4
Approved on: 2022-03-09
Published on: 2022-07-11
HGVS expressions
NM_000051.3:c.6995T>C
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro)
NC_000011.10:g.108327664T>C
CM000673.2:g.108327664T>C
NC_000011.9:g.108198391T>C
CM000673.1:g.108198391T>C
NC_000011.8:g.107703601T>C
NG_009830.1:g.109833T>C
NG_054724.1:g.147169A>G
ENST00000278616.9:c.6995T>C
ENST00000525056.2:n.1414T>C
ENST00000682286.1:n.1752T>C
ENST00000682302.1:n.1413T>C
ENST00000683174.1:n.8479T>C
ENST00000683524.1:n.2219T>C
ENST00000684152.1:n.2709T>C
ENST00000684447.1:n.1458T>C
ENST00000527805.6:c.*2059T>C
ENST00000675595.1:c.*2130T>C
ENST00000675843.1:c.6995T>C
ENST00000278616.8:c.6995T>C
ENST00000452508.6:c.6995T>C
ENST00000524792.5:n.3210T>C
ENST00000525537.2:n.271T>C
ENST00000525729.5:c.641-18593A>G
ENST00000527389.2:n.20T>C
ENST00000533690.5:n.2399T>C
NM_001330368.1:c.641-18593A>G
NM_001351110.1:c.*38+7556A>G
NM_001351834.1:c.6995T>C
NM_001330368.2:c.641-18593A>G
NM_001351110.2:c.*38+7556A>G
NM_001351834.2:c.6995T>C
NM_000051.4:c.6995T>C
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)
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Evidence submitted by expert panel
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