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.7919C>G (p.Thr2640Ser)

CA10579274

231842 (ClinVar)

Gene: ATM

Condition: hereditary breast cancer

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 1925ae6b-5d8b-4aab-8b09-091b95e6e353

Approved on: 2022-03-09

Published on: 2022-07-11

HGVS expressions

NM_000051.3:c.7919C>G

NM_000051.3(ATM):c.7919C>G (p.Thr2640Ser)

NC_000011.10:g.108332892C>G

CM000673.2:g.108332892C>G

NC_000011.9:g.108203619C>G

CM000673.1:g.108203619C>G

NC_000011.8:g.107708829C>G

NG_009830.1:g.115061C>G

NG_054724.1:g.141941G>C

ENST00000278616.9:c.7919C>G

ENST00000525056.2:n.2338C>G

ENST00000525537.3:n.1600C>G

ENST00000638786.2:n.625+855C>G

ENST00000682286.1:n.2676C>G

ENST00000682302.1:n.2337C>G

ENST00000683174.1:n.9403C>G

ENST00000683524.1:n.3143C>G

ENST00000684152.1:n.3344-994C>G

ENST00000684180.1:n.393C>G

ENST00000684447.1:n.3427C>G

ENST00000527805.6:c.*2983C>G

ENST00000675595.1:c.*3054C>G

ENST00000675843.1:c.7919C>G

ENST00000278616.8:c.7919C>G

ENST00000452508.6:c.7919C>G

ENST00000524755.5:n.300-1325G>C

ENST00000524792.5:n.4134C>G

ENST00000525056.1:n.116C>G

ENST00000525729.5:c.641-23821G>C

ENST00000527531.5:c.*1270-1325G>C

ENST00000533690.5:n.3323C>G

ENST00000533979.5:n.131C>G

ENST00000615746.4:c.*1270-1325G>C

NM_001330368.1:c.641-23821G>C

NM_001351110.1:c.*38+2328G>C

NM_001351834.1:c.7919C>G

NR_147053.2:n.2375-1325G>C

NM_001330368.2:c.641-23821G>C

NM_001351110.2:c.*38+2328G>C

NM_001351834.2:c.7919C>G

NM_000051.4:c.7919C>G

NR_147053.3:n.2373-1325G>C

NM_000051.4(ATM):c.7919C>G (p.Thr2640Ser)

Uncertain Significance

PM2_Supporting

PP3

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.7919C>G (p.Thr2640Ser) variant is absent in GnomAD v2.1.1 (PM2_Supporting). In silico predictors for this alteration (Align GVGD: C55; REVEL: 0.117) are indeterminate. 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.

PM2_Supporting

This variant is absent in GnomAD v2.1.1 (PM2_Supporting)

PP3

In silico predictors for this alteration (Align GVGD: C55; REVEL: 0.117) are indeterminate.

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