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.8734A>G (p.Arg2912Gly)

Curation Version - 2.0
Curation History
JSON LD for Version 2.0

CA157198

133641 (ClinVar)

Gene: ATM

Condition: ATM-related cancer predisposition

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 2560f0e1-9f2c-47aa-bea7-48edcf90c9a7

Approved on: 2022-03-09

Published on: 2025-09-15

HGVS expressions

NM_000051.3:c.8734A>G

NM_000051.3(ATM):c.8734A>G (p.Arg2912Gly)

NC_000011.10:g.108353828A>G

CM000673.2:g.108353828A>G

NC_000011.9:g.108224555A>G

CM000673.1:g.108224555A>G

NC_000011.8:g.107729765A>G

NG_009830.1:g.135997A>G

NG_054724.1:g.121005T>C

ENST00000452508.7:c.8734A>G

ENST00000713593.1:c.*8205A>G

ENST00000278616.9:c.8734A>G

ENST00000638786.2:n.1432A>G

ENST00000682286.1:n.3491A>G

ENST00000682302.1:n.3152A>G

ENST00000683174.1:n.10218A>G

ENST00000683524.1:n.3958A>G

ENST00000684152.1:n.4150A>G

ENST00000684180.1:n.1208A>G

ENST00000684447.1:n.5227A>G

ENST00000527805.6:c.*3798A>G

ENST00000675595.1:c.*3869A>G

ENST00000675843.1:c.8734A>G

ENST00000278616.8:c.8734A>G

ENST00000452508.6:c.8734A>G

ENST00000524755.5:c.227-18536T>C

ENST00000524792.5:n.4949A>G

ENST00000525178.5:n.222A>G

ENST00000525729.5:c.640+32092T>C

ENST00000526725.1:n.272-13464T>C

ENST00000527181.1:n.73A>G

ENST00000527531.5:c.*1196+1087T>C

ENST00000615746.4:c.*1196+1087T>C

NM_001330368.1:c.640+32092T>C

NM_001351110.1:c.695-18536T>C

NM_001351834.1:c.8734A>G

NR_147053.2:n.2301+1087T>C

NM_001330368.2:c.640+32092T>C

NM_001351110.2:c.695-18536T>C

NM_001351834.2:c.8734A>G

NM_000051.4:c.8734A>G

NR_147053.3:n.2299+1087T>C

Uncertain Significance

PP3 BP2_Strong

PM2 BA1 BS1

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.8734A>G (p.Arg2912Gly) variant is predicted deleterious by multiple protein in silico tools (PP3). This variant has been observed in a compound heterozygous state (presumed) in multiple individuals without Ataxia-Telangiectasia (BP2_Strong, GTR Lab IDs: 61756, 500031, <-4.0 POINTS). In summary, this variant meets criteria to be classified as uncertain significance based on the ACMG/AMP criteria applied as specified by the HBOP Variant Curation Expert Panel.

PP3

This variant is predicted deleterious by multiple protein in silico tools (PP3).

BP2_Strong

This variant has been observed in a compound heterozygous state (presumed) in multiple individuals without Ataxia-Telangiectasia (BP2_Strong, GTR Lab IDs: 61756, 500031, <-4.0 POINTS).

PM2

This variant has a GnomAD (v2.1.1) allele frequency of 0.03% (NFE) which is above the PM2 threshold of .001% but below the BS1 threshold of .05%.

BA1

No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline

BS1

GnomAD FAF .03% (NFE) does not exceed ATM BS1 threshold of .05%

Curation History

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