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.2614C>T (p.Pro872Ser)

CA157083

133610 (ClinVar)

Gene: ATM
Condition: hereditary breast cancer
Inheritance Mode: Autosomal dominant inheritance
UUID: 9323445f-3f23-4566-ae93-d2d61e92076d
Approved on: 2022-03-09
Published on: 2022-07-11

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)
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Benign

Met criteria codes 3
BP4 BA1 BP2_Strong

Evidence Links 0

Expert Panel

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.
Met criteria codes
BP4
This variant is predicted tolerated by multiple protein in silico tools (BP4).
BA1
GnomAD FAF 4.6% (AFR) exceeds ATM BA1 threshold of .5%
BP2_Strong
<-4 POINTS: Many biallelic adults without A-T are observed (Multiple Diagnostic Labs-BP2_Strong)
Curation History
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