NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: May 6, 2021)

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:
RCV001091959.2

Allele description [Variation Report for NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)]

NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)

Gene:
EXT2:exostosin glycosyltransferase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
HGVS:
  • NC_000011.10:g.44236302C>T
  • NG_007560.1:g.145754C>T
  • NM_000401.3:c.2044C>T
  • NM_001178083.2:c.1975C>T
  • NM_207122.2:c.1945C>TMANE SELECT
  • NP_000392.3:p.Arg682Ter
  • NP_001171554.1:p.Arg659Ter
  • NP_997005.1:p.Arg649Ter
  • LRG_494t1:c.2044C>T
  • LRG_494t2:c.1945C>T
  • LRG_494:g.145754C>T
  • LRG_494p1:p.Arg682Ter
  • NC_000011.9:g.44257852C>T
  • NM_207122.1:c.1945C>T
Protein change:
R649*
Links:
Molecular consequence:
  • NM_000401.3:c.2044C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001178083.2:c.1975C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_207122.2:c.1945C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001248263CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Jun 1, 2017)
germlineclinical testing

Citation Link,

SCV001763799GeneDxcriteria provided, single submitter
Likely pathogenic
(May 6, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001248263.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001763799.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26689913, 19344451, 25525159, 29625052)

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

Last Updated: Aug 17, 2021

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