NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 24, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766496.2

Allele description [Variation Report for NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)]

NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)

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.2873A>G (p.Glu958Gly)
Other names:
p.E958G:GAG>GGG
HGVS:
  • NC_000011.10:g.108271098A>G
  • NG_009830.1:g.53267A>G
  • NM_000051.3:c.2873A>G
  • NM_000051.4:c.2873A>GMANE SELECT
  • NM_001351834.2:c.2873A>G
  • NP_000042.3:p.Glu958Gly
  • NP_000042.3:p.Glu958Gly
  • NP_001338763.1:p.Glu958Gly
  • LRG_135t1:c.2873A>G
  • LRG_135:g.53267A>G
  • LRG_135p1:p.Glu958Gly
  • NC_000011.9:g.108141825A>G
  • p.E958G
Protein change:
E958G
Links:
dbSNP: rs587778069
NCBI 1000 Genomes Browser:
rs587778069
Molecular consequence:
  • NM_000051.3:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000051.4:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351834.2:c.2873A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000209714GeneDxcriteria provided, single submitter
Uncertain significance
(May 24, 2021)
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, SCV000209714.14

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24728327, 29470806, 31159747, 28652578, 33875564)

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

Last Updated: Nov 27, 2021

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