NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000184979.5

Allele description [Variation Report for NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)]

NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val)

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.91643C>T (p.Ala30548Val)
Other names:
p.A28907V:GCT>GTT
HGVS:
  • NC_000002.12:g.178550195G>A
  • NG_011618.3:g.285608C>T
  • NG_051363.1:g.32369G>A
  • NM_001256850.1:c.86720C>T
  • NM_001267550.2:c.91643C>TMANE SELECT
  • NM_003319.4:c.64448C>T
  • NM_133378.4:c.83939C>T
  • NM_133432.3:c.64823C>T
  • NM_133437.4:c.65024C>T
  • NP_001243779.1:p.Ala28907Val
  • NP_001254479.2:p.Ala30548Val
  • NP_003310.4:p.Ala21483Val
  • NP_596869.4:p.Ala27980Val
  • NP_597676.3:p.Ala21608Val
  • NP_597681.4:p.Ala21675Val
  • LRG_391t1:c.91643C>T
  • LRG_391:g.285608C>T
  • NC_000002.11:g.179414922G>A
  • NM_001267550.1:c.91643C>T
Protein change:
A21483V
Links:
dbSNP: rs553668520
NCBI 1000 Genomes Browser:
rs553668520
Molecular consequence:
  • NM_001256850.1:c.86720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.91643C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.64448C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.83939C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.64823C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.65024C>T - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000237755GeneDxno assertion provided
not providedgermlineclinical testing

Citation Link,

SCV001152666CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Aug 1, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000237755.2

#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 CARDIOMYOPATHY panel(s).

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001152666.7

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

Last Updated: Oct 6, 2021

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