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NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) AND ATM-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 11, 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:
RCV004739284.1

Allele description [Variation Report for NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)]

NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)

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.7271T>G (p.Val2424Gly)
Other names:
p.V2424G:GTA>GGA; NM_000051.3(ATM):c.7271T>G
HGVS:
  • NC_000011.10:g.108329202T>G
  • NG_009830.1:g.111371T>G
  • NG_054724.1:g.145631A>C
  • NM_000051.4:c.7271T>GMANE SELECT
  • NM_001330368.2:c.641-20131A>C
  • NM_001351110.2:c.*38+6018A>C
  • NM_001351834.2:c.7271T>G
  • NP_000042.3:p.Val2424Gly
  • NP_000042.3:p.Val2424Gly
  • NP_001338763.1:p.Val2424Gly
  • LRG_135t1:c.7271T>G
  • LRG_135:g.111371T>G
  • LRG_135p1:p.Val2424Gly
  • NC_000011.9:g.108199929T>G
  • NM_000051.3:c.7271T>G
  • Q13315:p.Val2424Gly
  • p.V2424G
Protein change:
V2424G; VAL2424GLY
Links:
UniProtKB: Q13315#VAR_010854; OMIM: 607585.0005; dbSNP: rs28904921
NCBI 1000 Genomes Browser:
rs28904921
Molecular consequence:
  • NM_001330368.2:c.641-20131A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351110.2:c.*38+6018A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000051.4:c.7271T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.7271T>G - 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
SCV005346782PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jul 11, 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, SCV005346782.1

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

Description

The ATM c.7271T>G variant is predicted to result in the amino acid substitution p.Val2424Gly. This variant has been reported in individuals with ataxia telangiectasia (Stankovic et al. 1998. PubMed ID: 9463314; McConville et al. 1996. PubMed ID: 8755918), multiple individuals with breast cancer (see for example - Bernstein et al. 2006. PubMed ID: 16958054; Goldgar et al. 2011. PubMed ID: 21787400), and one individual with gastric cancer (Huang et al. 2015. PubMed ID: 26506520). This variant is reported in 0.0085% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/3023/). This variant is interpreted as pathogenic.

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

Last Updated: Jan 25, 2025