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NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) AND ATM-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 31, 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:
RCV004551268.2

Allele description [Variation Report for NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)]

NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)

Genes:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
Other names:
p.V2716A:GTT>GCT
HGVS:
  • NC_000011.10:g.108335105T>C
  • NG_009830.1:g.117274T>C
  • NG_054724.1:g.139728A>G
  • NM_000051.4:c.8147T>CMANE SELECT
  • NM_001330368.2:c.641-26034A>G
  • NM_001351110.2:c.*38+115A>G
  • NM_001351834.2:c.8147T>C
  • NP_000042.3:p.Val2716Ala
  • NP_000042.3:p.Val2716Ala
  • NP_000042.3:p.Val2716Ala
  • NP_001338763.1:p.Val2716Ala
  • LRG_135t1:c.8147T>C
  • LRG_135:g.117274T>C
  • LRG_135p1:p.Val2716Ala
  • NC_000011.9:g.108205832T>C
  • NM_000051.3:c.8147T>C
  • p.V2716A
Protein change:
V2716A
Links:
dbSNP: rs587782652
NCBI 1000 Genomes Browser:
rs587782652
Molecular consequence:
  • NM_001330368.2:c.641-26034A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+115A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.8147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.8147T>C - 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
SCV004724027PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 31, 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, SCV004724027.2

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

Description

The ATM c.8147T>C variant is predicted to result in the amino acid substitution p.Val2716Ala. This variant has been reported in individuals with ataxia telangiectasia and has been shown to have a reduction or abolished kinase activity (Scott et al. 2002. PubMed ID: 11805335; Demuth et al. 2011. PubMed ID: 21965147). More recently, this variant has been identified in individuals with breast cancer (Table S1, Susswein et al. 2016. PubMed ID: 26681312), colorectal cancer (Table S10, Al Dubayan et al. 2018. PubMed ID: 29478780) and in the tumor of an individual with unspecified cancer type (Whitworth et al. 2018. PubMed ID: 29909963). This variant is reported in 0.0054% of alleles in individuals of European (non-Finnish) descent in gnomAD and is classified in ClinVar as pathogenic or likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/142700/). This variant is interpreted as pathogenic.

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

Last Updated: Nov 3, 2024