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.146C>G (p.Ser49Cys)
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA202190
3048 (ClinVar)
Gene: ATM
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 0ea617e8-2bed-480f-9f56-843da825a738
Approved on: 2022-03-09
Published on: 2022-07-11
HGVS expressions
NM_000051.3:c.146C>G
NM_000051.3(ATM):c.146C>G (p.Ser49Cys)
NC_000011.10:g.108227849C>G
CM000673.2:g.108227849C>G
NC_000011.9:g.108098576C>G
CM000673.1:g.108098576C>G
NC_000011.8:g.107603786C>G
NG_009830.1:g.10018C>G
ENST00000278616.9:c.146C>G
ENST00000682147.1:n.276C>G
ENST00000682430.1:n.245C>G
ENST00000682465.1:c.146C>G
ENST00000682516.1:n.280C>G
ENST00000682956.1:n.280C>G
ENST00000683150.1:c.146C>G
ENST00000683174.1:n.296C>G
ENST00000683468.1:c.146C>G
ENST00000683488.1:n.4806C>G
ENST00000683914.1:c.146C>G
ENST00000684029.1:c.146C>G
ENST00000684037.1:c.146C>G
ENST00000684061.1:n.280C>G
ENST00000684179.1:n.280C>G
ENST00000527805.6:c.146C>G
ENST00000638443.1:c.146C>G
ENST00000639240.1:c.146C>G
ENST00000639953.1:c.146C>G
ENST00000640388.1:c.146C>G
ENST00000675595.1:c.146C>G
ENST00000675843.1:c.146C>G
ENST00000278616.8:c.146C>G
ENST00000452508.6:c.146C>G
ENST00000526567.5:c.146C>G
ENST00000527805.5:c.146C>G
ENST00000527891.5:c.146C>G
ENST00000530958.5:c.146C>G
ENST00000532931.5:c.146C>G
ENST00000601453.2:c.146C>G
NM_001351834.1:c.146C>G
NM_001351835.1:c.146C>G
NM_001351836.1:c.146C>G
NM_001351834.2:c.146C>G
NM_000051.4:c.146C>G
NM_001351835.2:c.146C>G
NM_001351836.2:c.146C>G
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
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Evidence submitted by expert panel
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