NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) AND not provided

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001579826.2

Allele description [Variation Report for NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)]

NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)

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.5515C>T (p.Gln1839Ter)
HGVS:
  • NC_000011.10:g.108304693C>T
  • NG_009830.1:g.86862C>T
  • NM_000051.4:c.5515C>TMANE SELECT
  • NM_001351834.2:c.5515C>T
  • NP_000042.3:p.Gln1839Ter
  • NP_000042.3:p.Gln1839Ter
  • NP_001338763.1:p.Gln1839Ter
  • LRG_135t1:c.5515C>T
  • LRG_135:g.86862C>T
  • LRG_135p1:p.Gln1839Ter
  • NC_000011.9:g.108175420C>T
  • NM_000051.3:c.5515C>T
Protein change:
Q1839*
Links:
dbSNP: rs786204751
NCBI 1000 Genomes Browser:
rs786204751
Molecular consequence:
  • NM_000051.4:c.5515C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351834.2:c.5515C>T - 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
SCV001808636Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedPathogenicgermlineclinical testing

SCV001952189Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808636.1

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

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001952189.1

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

Last Updated: Dec 4, 2021

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