NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: May 13, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000725890.3

Allele description [Variation Report for NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)]

NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter)
Other names:
p.R13326*:CGA>TGA
HGVS:
  • NC_000002.12:g.178622684G>A
  • NG_011618.3:g.213119C>T
  • NM_001256850.1:c.39976C>T
  • NM_001256850.1:c.39976C>T
  • NM_001267550.2:c.44899C>TMANE SELECT
  • NM_001267550.2:c.44899C>TMANE SELECT
  • NM_003319.4:c.17704C>T
  • NM_003319.4:c.17704C>T
  • NM_133378.4:c.37195C>T
  • NM_133378.4:c.37195C>T
  • NM_133432.3:c.18079C>T
  • NM_133437.4:c.18280C>T
  • NP_001243779.1:p.Arg13326Ter
  • NP_001243779.1:p.Arg13326Ter
  • NP_001254479.2:p.Arg14967Ter
  • NP_001254479.2:p.Arg14967Ter
  • NP_003310.4:p.Arg5902Ter
  • NP_003310.4:p.Arg5902Ter
  • NP_596869.4:p.Arg12399Ter
  • NP_596869.4:p.Arg12399Ter
  • NP_597676.3:p.Arg6027Ter
  • NP_597681.4:p.Arg6094Ter
  • LRG_391:g.213119C>T
  • NC_000002.11:g.179487411G>A
  • NC_000002.11:g.179487411G>A
  • NM_133379.3:c.*122901C>T
  • p.Arg12399X
Protein change:
R12399*
Links:
dbSNP: rs727505350
NCBI 1000 Genomes Browser:
rs727505350
Molecular consequence:
  • NM_001256850.1:c.39976C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001267550.2:c.44899C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003319.4:c.17704C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133378.4:c.37195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133432.3:c.18079C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133437.4:c.18280C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000236837GeneDxcriteria provided, single submitter
Pathogenic
(May 13, 2021)
germlineclinical testing

Citation Link,

SCV000340274EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Aug 28, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000236837.11

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

Description

Reported in ClinVar (ClinVar Variant ID# 180102; Landrum et al., 2016); Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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; Located in one of the constitutive exons in the I-band region. Studies suggest that truncating variants affecting constitutive exons throughout the TTN gene are significantly associated with DCM (Deo, 2016; Schafer et al., 2017); This variant is associated with the following publications: (PMID: 25163546, 27813223, 29447731)

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000340274.4

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

Last Updated: Nov 20, 2021

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