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]

Link to SEPIO compliant JSON-LD document

Variant: NM_000051.3(ATM):c.2614C>T (p.Pro872Ser)

CA157083

133610 (ClinVar)

Gene: ATM

Condition: hereditary breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 9323445f-3f23-4566-ae93-d2d61e92076d

HGVS expressions

NM_000051.3:c.2614C>T

NM_000051.3(ATM):c.2614C>T (p.Pro872Ser)

NC_000011.10:g.108267318C>T

CM000673.2:g.108267318C>T

NC_000011.9:g.108138045C>T

CM000673.1:g.108138045C>T

NC_000011.8:g.107643255C>T

NG_009830.1:g.49487C>T

ENST00000278616.9:c.2614C>T

ENST00000682516.1:n.2748C>T

ENST00000683174.1:n.2764C>T

ENST00000683605.1:n.2109C>T

ENST00000684037.1:c.*1549C>T

ENST00000527805.6:c.2614C>T

ENST00000675595.1:c.2449C>T

ENST00000675843.1:c.2614C>T

ENST00000278616.8:c.2614C>T

ENST00000452508.6:c.2614C>T

ENST00000527805.5:c.2614C>T

NM_001351834.1:c.2614C>T

NM_001351834.2:c.2614C>T

NM_000051.4:c.2614C>T

NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)

Benign

BP4 BP2_Strong 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

PDF

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Hereditary Breast, Ovarian and Pancreatic Cancer VCEP

The ATM c.2614C>T (p.Pro872Ser) variant has a GnomAD FAF 4.6% (AFR) exceeding ATM BA1 threshold of .5% (BA1). This variant has been observed in a homozygous or compound heterozygous state (presumed and/or confirmed) in multiple individuals without Ataxia-Telangiectasia (BP2_Strong, Clinical Diagnostic Laboratories). This variant is predicted tolerated by multiple protein in silico tools (BP4). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the HBOP Variant Curation Expert Panel.

BP4

This variant is predicted tolerated by multiple protein in silico tools (BP4).

BP2_Strong

<-4 POINTS: Many biallelic adults without A-T are observed (Multiple Diagnostic Labs-BP2_Strong)

BA1

GnomAD FAF 4.6% (AFR) exceeds ATM BA1 threshold of .5%

Approved on: 2022-03-09

Published on: 2022-07-11

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