NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(2) (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000657941.3

Allele description [Variation Report for NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)]

NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter)
HGVS:
  • NC_000002.12:g.178667239C>A
  • NG_011618.3:g.168564G>T
  • NM_001256850.1:c.34264+2979G>T
  • NM_001267550.2:c.35794G>TMANE SELECT
  • NM_003319.4:c.13283-24922G>T
  • NM_133378.4:c.31483+2979G>T
  • NM_133432.3:c.13658-24922G>T
  • NM_133437.4:c.13859-24922G>T
  • NP_001254479.2:p.Glu11932Ter
  • LRG_391:g.168564G>T
  • NC_000002.11:g.179531966C>A
Protein change:
E11932*
Links:
dbSNP: rs878854299
NCBI 1000 Genomes Browser:
rs878854299
Molecular consequence:
  • NM_001256850.1:c.34264+2979G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003319.4:c.13283-24922G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133378.4:c.31483+2979G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13658-24922G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13859-24922G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001267550.2:c.35794G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
6

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000338622EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Feb 6, 2018)
germlineclinical testing

Citation Link,

SCV000779710GeneDxcriteria provided, single submitter
Uncertain significance
(May 18, 2018)
germlineclinical testing

Citation Link,

SCV001152960CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Aug 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000338622.4

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

From GeneDx, SCV000779710.2

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

Description

The E11932X variant in the TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E11932X variant is not observed in large population cohorts (Lek et al., 2016). We interpret E11932X as a variant of uncertain significance.

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001152960.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Jul 10, 2021

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