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.332-1G>A

Curation Version - 1.2
Curation History
JSON LD for Version 1.2

CA6264590

231535 (ClinVar)

Gene: ATM

Condition: hereditary breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 6626d6a0-96a2-4200-abe9-196f6ee3d520

Approved on: 2022-11-22

Published on: 2023-03-10

HGVS expressions

NM_000051.3:c.332-1G>A

NM_000051.3(ATM):c.332-1G>A

NC_000011.10:g.108235669G>A

CM000673.2:g.108235669G>A

NC_000011.9:g.108106396G>A

CM000673.1:g.108106396G>A

NC_000011.8:g.107611606G>A

NG_009830.1:g.17838G>A

ENST00000278616.9:c.332-1G>A

ENST00000682147.1:n.462-1G>A

ENST00000682430.1:n.431-1G>A

ENST00000682516.1:n.466-1G>A

ENST00000682956.1:n.466-1G>A

ENST00000683174.1:n.482-1G>A

ENST00000684029.1:c.332-1G>A

ENST00000684037.1:c.332-1G>A

ENST00000684061.1:n.466-1G>A

ENST00000684179.1:n.465+6346G>A

ENST00000527805.6:c.332-1G>A

ENST00000675595.1:c.331+6346G>A

ENST00000675843.1:c.332-1G>A

ENST00000278616.8:c.332-1G>A

ENST00000452508.6:c.332-1G>A

ENST00000527805.5:c.332-1G>A

ENST00000527891.5:c.331+6346G>A

ENST00000530958.5:c.332-1G>A

ENST00000601453.2:c.332-1G>A

NM_001351834.1:c.332-1G>A

NM_001351834.2:c.332-1G>A

NM_000051.4:c.332-1G>A

NM_000051.4(ATM):c.332-1G>A

Pathogenic

PM2_Supporting PM3_Strong PVS1_Strong

BS1 BA1

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.332-1G>A variant is predicted to create an NMD-escaping transcript resulting in a loss of part of the HEAT repeat domain (PVS1_strong). This variant has been observed in a compound heterozygous state (confirmed) in one individual with Ataxia-Telangiectasia (PMID: 10980530, PM3_strong). This variant is a singleton in gnomAD v2.1.1 and therefore considered rare (PM2_Supporting). In summary, this variant meets criteria to be classified as pathogenic. ACMG/AMP criteria applied, as specified by the HBOP Variant Curation Expert Panel.

PM2_Supporting

This variant is a singleton in gnomAD v2.1.1 and therefore considered rare (PM2_Supporting).

PM3_Strong

This variant has been observed in a compound heterozygous state (confirmed) in one individual with Ataxia-Telangiectasia (PMID: 10980530 PM3) (4 POINTS)

PVS1_Strong

This variant is predicted to create an NMD-escaping transcript resulting in a loss of part of the HEAT repeat domain.

BS1

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

BA1

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

Curation History

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