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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004724027	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Jul 31, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004724027

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Jul 31, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004724027.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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