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.1176C>G (p.Gly392=)

Curation Version - 2.0
Curation History
JSON LD for Version 2.0

CA167509

142140 (ClinVar)

Gene: ATM

Condition: ATM-related cancer predisposition

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 5dec1fdb-2f40-4066-b77b-05a8110a0cf9

Approved on: 2022-03-09

Published on: 2025-09-15

HGVS expressions

NM_000051.3:c.1176C>G

NM_000051.3(ATM):c.1176C>G (p.Gly392=)

NC_000011.10:g.108249043C>G

CM000673.2:g.108249043C>G

NC_000011.9:g.108119770C>G

CM000673.1:g.108119770C>G

NC_000011.8:g.107624980C>G

NG_009830.1:g.31212C>G

ENST00000452508.7:c.1176C>G

ENST00000713593.1:c.*647C>G

ENST00000278616.9:c.1176C>G

ENST00000682516.1:n.1310C>G

ENST00000682956.1:n.1310C>G

ENST00000683174.1:n.1326C>G

ENST00000683605.1:n.671C>G

ENST00000684037.1:c.*111C>G

ENST00000684061.1:n.1310C>G

ENST00000684179.1:n.1145C>G

ENST00000527805.6:c.1176C>G

ENST00000675595.1:c.1011C>G

ENST00000675843.1:c.1176C>G

ENST00000278616.8:c.1176C>G

ENST00000452508.6:c.1176C>G

ENST00000527805.5:c.1176C>G

NM_001351834.1:c.1176C>G

NM_001351834.2:c.1176C>G

NM_000051.4:c.1176C>G

Benign

BP2_Strong BA1 BP7 BP4

Evidence Links 0

Expert Panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

Criteria Specification Information

Criteria Specification: ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

The ATM c.1176C>G (p.Gly392=) variant has a GnomAD (v2.1.1) filtering allele frequency of 4.878% (AFR) which is above the ATM BA1 threshold of .5% (BA1). This variant has been observed in a homozygous and compound heterozygous state (presumed) in multiple individuals without Ataxia-Telangiectasia (BP2_Strong, GTR Lab IDs: 500031, 61756). This is a synonymous variant (BP7) and in silico predictors find that this variant is unlikely to affect splicing (Splice AI/MaxENTScan 0%) (BP4). 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 compound heterozygous state (presumed) in multiple individuals without Ataxia-Telangiectasia (BP2_Strong, GTR Lab IDs: 500031, 61756).

BA1

This variant has a GnomAD (v2.1.1) filtering allele frequency of 4.878% (AFR) which is above the ATM BA1 threshold of .5% (BA1).

BP7

This is a synonymous (silent) variant.

BP4

In silico predictors find that this variant is unlikely to affect splicing (Splice AI/MaxENTScan 0%) (BP4)

Curation History

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