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NM_000051.4(ATM):c.5203dup (p.Thr1735fs) AND not provided

Germline classification:
Pathogenic (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001795357.2

Allele description [Variation Report for NM_000051.4(ATM):c.5203dup (p.Thr1735fs)]

NM_000051.4(ATM):c.5203dup (p.Thr1735fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)
HGVS:
  • NC_000011.10:g.108301673dup
  • NG_009830.1:g.83842dup
  • NM_000051.4:c.5203dupMANE SELECT
  • NM_001351834.2:c.5203dup
  • NP_000042.3:p.Thr1735fs
  • NP_000042.3:p.Thr1735fs
  • NP_001338763.1:p.Thr1735fs
  • LRG_135t1:c.5203dup
  • LRG_135:g.83842dup
  • LRG_135p1:p.Thr1735fs
  • NC_000011.9:g.108172399_108172400insA
  • NC_000011.9:g.108172400dup
  • NM_000051.3:c.5203dup
  • NM_000051.3:c.5203dupA
Protein change:
T1735fs
Links:
dbSNP: rs878853518
NCBI 1000 Genomes Browser:
rs878853518
Molecular consequence:
  • NM_000051.4:c.5203dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.5203dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002035029Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Pathogenicgermlineclinical testing

SCV002037947Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Pathogenicgermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV002035029.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV002037947.1

#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: Jan 13, 2025