NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(2) (Last evaluated: Jul 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000732240.8

Allele description [Variation Report for NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)]

NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr)
HGVS:
  • NC_000002.12:g.178739713A>G
  • NG_011618.3:g.96090T>C
  • NM_001256850.1:c.12569T>C
  • NM_001267550.2:c.13520T>CMANE SELECT
  • NM_003319.4:c.12431T>C
  • NM_133378.4:c.10361-1353T>C
  • NM_133432.3:c.12806T>C
  • NM_133437.4:c.13007T>C
  • NP_001243779.1:p.Met4190Thr
  • NP_001254479.2:p.Met4507Thr
  • NP_003310.4:p.Met4144Thr
  • NP_597676.3:p.Met4269Thr
  • NP_597681.4:p.Met4336Thr
  • LRG_391:g.96090T>C
  • NC_000002.11:g.179604440A>G
Protein change:
M4144T
Links:
dbSNP: rs191968963
NCBI 1000 Genomes Browser:
rs191968963
Molecular consequence:
  • NM_133378.4:c.10361-1353T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.12569T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.13520T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.12431T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.12806T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.13007T>C - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000860164EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 9, 2018)
germlineclinical testing

Citation Link,

SCV000981041GeneDxcriteria provided, single submitter
Likely benign
(Jul 8, 2020)
germlineclinical testing

Citation Link,

SCV001153096CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jun 1, 2018)
germlineclinical testing

Citation Link,

SCV001799841Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedUncertain significancegermlineclinical testing

SCV001972480Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000860164.1

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

From GeneDx, SCV000981041.2

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001153096.7

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001799841.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001972480.1

#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: Oct 6, 2021

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