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

Germline classification:
Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:
Nov 15, 2021
Review status:
criteria provided, conflicting classifications
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:
RCV000657941.38

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
  • NM_001267550.1:c.35794G>T
Protein change:
E11932*
Links:
dbSNP: rs878854299
NCBI 1000 Genomes Browser:
rs878854299
Molecular consequence:
  • 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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000338622Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Feb 6, 2018)
germlineclinical testing

Citation Link,

SCV000779710GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Nov 15, 2021)
germlineclinical testing

Citation Link,

SCV001152960CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
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 Eurofins Ntd Llc (ga), SCV000338622.5

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

From GeneDx, SCV000779710.4

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

Description

Observed with a splice variant on the opposite allele (in trans) in a patient with a congenital TTN-related disorder in published literature (Oates et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 32778822, 29691892)

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

From CeGaT Center for Human Genetics Tuebingen, SCV001152960.32

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

Last Updated: Jun 22, 2025