NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Nov 1, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000255389.4

Allele description [Variation Report for NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)]

NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)

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.4735C>T (p.Gln1579Ter)
HGVS:
  • NC_000011.10:g.108293436C>T
  • NG_009830.1:g.75605C>T
  • NM_000051.3:c.4735C>T
  • NM_000051.4:c.4735C>TMANE SELECT
  • NM_001351834.2:c.4735C>T
  • NP_000042.3:p.Gln1579Ter
  • NP_000042.3:p.Gln1579Ter
  • NP_001338763.1:p.Gln1579Ter
  • LRG_135t1:c.4735C>T
  • LRG_135:g.75605C>T
  • LRG_135p1:p.Gln1579Ter
  • NC_000011.9:g.108164163C>T
Protein change:
Q1579*
Links:
dbSNP: rs869312755
NCBI 1000 Genomes Browser:
rs869312755
Molecular consequence:
  • NM_000051.3:c.4735C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000051.4:c.4735C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.4735C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000322058GeneDxcriteria provided, single submitter
Pathogenic
(Aug 25, 2017)
germlineclinical testing

Citation Link,

SCV000692733CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Nov 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000322058.7

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

Description

This variant is denoted ATM c.4735C>T at the cDNA level and p.Gln1579Ter (Q1579X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>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 the compound heterozygous state with a second ATM pathogenic variant in at least one individual with ataxia telangiectasia (R?be 2010, Hoche 2014), and in a woman with breast cancer and a family history of ovarian cancer (Shirts 2016). We consider this variant to be pathogenic.

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000692733.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 27, 2021

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