NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 8, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000482158.1

Allele description [Variation Report for NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)]

NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)

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.1931C>A (p.Ser644Ter)
HGVS:
  • NC_000011.10:g.108253846C>A
  • NG_009830.1:g.36015C>A
  • NM_000051.3:c.1931C>A
  • NM_000051.4:c.1931C>AMANE SELECT
  • NM_001351834.2:c.1931C>A
  • NP_000042.3:p.Ser644Ter
  • NP_000042.3:p.Ser644Ter
  • NP_001338763.1:p.Ser644Ter
  • LRG_135t1:c.1931C>A
  • LRG_135:g.36015C>A
  • LRG_135p1:p.Ser644Ter
  • NC_000011.9:g.108124573C>A
Protein change:
S644*
Links:
dbSNP: rs768362387
NCBI 1000 Genomes Browser:
rs768362387
Molecular consequence:
  • NM_000051.3:c.1931C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000051.4:c.1931C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.1931C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568316GeneDxcriteria provided, single submitter
Pathogenic
(Jun 8, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000568316.5

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

Description

This variant is denoted ATM c.1931C>A at the cDNA level and p.Ser644Ter (S644X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one individual with Ataxia-Telangiectasia, in the presumed compound heterozygous state (Li 2000), as well as in individuals with pancreatic and gastric cancer (Grant 2013, Helgason 2015, Roberts 2016). We consider this variant to be pathogenic.

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

Last Updated: Oct 30, 2021

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