NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000176789.6

Allele description [Variation Report for NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)]

NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)

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.84923A>C (p.Gln28308Pro)
Other names:
p.Q26667P:CAA>CCA
HGVS:
  • NC_000002.12:g.178561209T>G
  • NG_011618.3:g.274594A>C
  • NG_051363.1:g.43383T>G
  • NM_001256850.1:c.80000A>C
  • NM_001267550.2:c.84923A>CMANE SELECT
  • NM_003319.4:c.57728A>C
  • NM_133378.4:c.77219A>C
  • NM_133432.3:c.58103A>C
  • NM_133437.4:c.58304A>C
  • NP_001243779.1:p.Gln26667Pro
  • NP_001254479.2:p.Gln28308Pro
  • NP_003310.4:p.Gln19243Pro
  • NP_596869.4:p.Gln25740Pro
  • NP_597676.3:p.Gln19368Pro
  • NP_597681.4:p.Gln19435Pro
  • LRG_391:g.274594A>C
  • NC_000002.11:g.179425936T>G
  • c.77219A>C
Protein change:
Q19243P
Links:
dbSNP: rs201674674
NCBI 1000 Genomes Browser:
rs201674674
Molecular consequence:
  • NM_001256850.1:c.80000A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.84923A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.57728A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.77219A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.58103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.58304A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000228510EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(May 24, 2017)
germlineclinical testing

Citation Link,

SCV000237658GeneDxno assertion provided
not providedgermlineclinical testing

Citation Link,

SCV001924761Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedUncertain significancegermlineclinical testing

SCV001974121Clinical 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 providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000228510.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV000237658.2

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

Description

Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM-CRDM,CARDIOMYOPATHY panel(s).

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

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001924761.1

#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, SCV001974121.1

#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 20, 2021

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