Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_000051.3(ATM):c.146C>G (p.Ser49Cys)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA202190

3048 (ClinVar)

Gene: ATM

Condition: hereditary breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 0ea617e8-2bed-480f-9f56-843da825a738

Approved on: 2022-03-09

Published on: 2022-03-09

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

ENST00000452508.7:c.146C>G

ENST00000683914.2:c.146C>G

ENST00000713593.1:c.146C>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

Benign

BP2_Strong BA1

BP4 PP3

Evidence Links 0

Expert Panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

The ATM c.146C>G (p.Ser49Cys) variant has a GnomAD (v2.1.1) filtering allele frequency of 1.208% (NFE) which is above the ATM BA1 threshold of .5% (BA1). This variant has been observed in a homozygous and/or compound heterozygous state (presumed) in multiple individuals without Ataxia-Telangiectasia (Laboratory data) (BP2_Strong). In summary, this variant meets criteria to be classified as benign based on the ACMG/AMP criteria applied as specified by the HBOP Variant Curation Expert Panel.

BP2_Strong

This variant has been observed in a homozygous and/or compound heterozygous state (presumed and/or confirmed) in multiple individuals without Ataxia-Telangiectasia (Laboratory data -24)

BA1

This variant has a GnomAD (v2.1.1) filtering allele frequency of 1.208% (NFE) which is above the ATM BS1 threshold of .5% (BA1)

BP4

Conflicting predictors

PP3

Conflicting predictors

Curation History

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