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NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) AND ATM-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 3, 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:
RCV004549548.3

Allele description [Variation Report for NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)]

NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
HGVS:
  • NC_000011.10:g.108284282del
  • NC_000011.9:g.108155008del
  • NG_009830.1:g.66451del
  • NM_000051.4:c.3802delMANE SELECT
  • NM_001351834.2:c.3802del
  • NP_000042.3:p.Glu1267_Val1268insTer
  • NP_001338763.1:p.Glu1267_Val1268insTer
  • LRG_135:g.66451del
  • NC_000011.9:g.108155008del
  • NC_000011.9:g.108155009del
  • NC_000011.9:g.108155009del
  • NC_000011.9:g.108155009delG
  • NM_000051.3:c.3802delG
  • NM_000051.4:c.3802del
  • NM_000051.4:c.3802delGMANE SELECT
  • NM_001351834.2:c.3802del
  • p.V1268*
  • p.V1268X
Links:
dbSNP: rs587779834
NCBI 1000 Genomes Browser:
rs587779834
Molecular consequence:
  • NM_000051.4:c.3802del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.3802del - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004741482PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jun 3, 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, SCV004741482.2

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

Description

The ATM c.3802delG variant is predicted to result in premature protein termination (p.Val1268*). This variant has been reported in the homozygous or compound heterozygous states in several individuals with ataxia telangiectasia (McConville et al. 1996. PubMed ID: 8755918; Stankovic et al. 1998. PubMed ID: 9463314; Sandoval et al. 1999. PubMed ID: 9887333; Podralska et al. 2014. PubMed ID: 25614872), and individuals with breast and pancreatic cancer (Dörk et al. 2001. PubMed ID: 11606401; Roberts et al. 2012. PubMed ID: 22585167). This variant is reported in 0.0085% of alleles in individuals of Latino descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/127374/). Nonsense variants in ATM are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 10, 2024