NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Nov 11, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000184258.7

Allele description [Variation Report for NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)]

NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
Other names:
p.R22227*:CGA>TGA
HGVS:
  • NC_000002.12:g.178574530G>A
  • NG_011618.3:g.261273C>T
  • NG_051363.1:g.56704G>A
  • NM_001256850.1:c.66679C>T
  • NM_001267550.2:c.71602C>TMANE SELECT
  • NM_003319.4:c.44407C>T
  • NM_133378.4:c.63898C>T
  • NM_133432.3:c.44782C>T
  • NM_133437.4:c.44983C>T
  • NP_001243779.1:p.Arg22227Ter
  • NP_001254479.2:p.Arg23868Ter
  • NP_003310.4:p.Arg14803Ter
  • NP_596869.4:p.Arg21300Ter
  • NP_597676.3:p.Arg14928Ter
  • NP_597681.4:p.Arg14995Ter
  • LRG_391t1:c.71602C>T
  • LRG_391:g.261273C>T
  • NC_000002.11:g.179439257G>A
  • NM_001267550.1:c.71602C>T
  • NM_133379.3:c.*171055C>T
  • c.63898C>T
  • p.Arg21300X
Protein change:
R14803*
Links:
dbSNP: rs397517689
NCBI 1000 Genomes Browser:
rs397517689
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
SCV000236880GeneDxcriteria provided, single submitter
Pathogenic
(Nov 11, 2020)
germlineclinical testing

Citation Link,

SCV001502354CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely pathogenic
(Oct 1, 2020)
germlineclinical testing

Citation Link,

SCV001742881Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedPathogenicgermlineclinical testing

SCV001932597Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000236880.12

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

Description

Not observed at a 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 the A-band region of titin, where the majority of truncating pathogenic variants associated with DCM have been reported (Herman et al., 2012); This variant is associated with the following publications: (PMID: 28798025, 22335739, 24503780, 28416588, 23975875, 25589632, 26735901, 29447731, 31514951)

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001502354.3

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742881.4

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001932597.1

#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: Nov 27, 2021

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