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NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) AND ATM-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004739514.1

Allele description [Variation Report for NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)]

NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)
HGVS:
  • NC_000011.10:g.108253989C>T
  • NG_009830.1:g.36158C>T
  • NM_000051.4:c.2074C>TMANE SELECT
  • NM_001351834.2:c.2074C>T
  • NP_000042.3:p.Arg692Cys
  • NP_000042.3:p.Arg692Cys
  • NP_001338763.1:p.Arg692Cys
  • LRG_135t1:c.2074C>T
  • LRG_135:g.36158C>T
  • LRG_135p1:p.Arg692Cys
  • NC_000011.9:g.108124716C>T
  • NM_000051.3:c.2074C>T
  • p.R692C
Protein change:
R692C
Links:
dbSNP: rs765965513
NCBI 1000 Genomes Browser:
rs765965513
Molecular consequence:
  • NM_000051.4:c.2074C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2074C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ATM-related disorder
Synonyms:
ATM-related disorders; ATM-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005360067PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(May 2, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005360067.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ATM c.2074C>T variant is predicted to result in the amino acid substitution p.Arg692Cys. This variant has been reported in individuals with a history of breast and/or ovarian cancer, as well as a colorectal tumor specimen (Caminsky et al. 2016. PubMed ID: 26898890, Table S15; Decker et al. 2017. PubMed ID: 28779002, Table S5; Crobach et al. 2016. PubMed ID: 27499925, Table S3). It has also been reported in a control individual from a chronic lymphocytic leukemia cohort (Tiao et al. 2017. PubMed ID: 28652578, Table S6). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD and has conflicting interpretations of likely benign and uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/184752/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024