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NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 9, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000211999.1

Allele description

NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter)
Other names:
p.Y1124*:TAC>TAG
HGVS:
  • NC_000011.10:g.108279578C>G
  • NG_009830.1:g.61747C>G
  • NM_000051.3:c.3372C>G
  • NP_000042.3:p.Tyr1124Ter
  • LRG_135t1:c.3372C>G
  • LRG_135:g.61747C>G
  • LRG_135p1:p.Tyr1124Ter
  • NC_000011.9:g.108150305C>G
  • p.Tyr1124Stop
  • p.Y1124*
Protein change:
Y1124*
Links:
dbSNP: rs587779833
NCBI 1000 Genomes Browser:
rs587779833
Molecular consequence:
  • NM_000051.3:c.3372C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000149085GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 9, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000149085.12

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

Description

This variant is denoted ATM c.3372C>G at the cDNA level and p.Tyr1124Ter (Y1124X) at the protein level. The substitution creates a nonsense variant, changing a Tyrosine to a premature stop codon (TAC>TAG). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. ATM Tyr1124Ter has been observed in the homozygous state in at least one individual with Ataxia-Telangiectasia (Li 2000). We consider this variant to be pathogenic.

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

Last Updated: Dec 11, 2017