NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Nov 4, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000247051.1

Allele description [Variation Report for NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)]

NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)
HGVS:
  • NC_000002.12:g.178711181A>G
  • NG_011618.3:g.124622T>C
  • NM_001256850.1:c.27104T>C
  • NM_001267550.2:c.28055T>CMANE SELECT
  • NM_003319.4:c.13282+26901T>C
  • NM_133378.4:c.24323T>C
  • NM_133432.3:c.13657+26901T>C
  • NM_133437.4:c.13858+26901T>C
  • NP_001243779.1:p.Leu9035Ser
  • NP_001254479.2:p.Leu9352Ser
  • NP_596869.4:p.Leu8108Ser
  • LRG_391:g.124622T>C
  • NC_000002.11:g.179575908A>G
Protein change:
L8108S
Links:
dbSNP: rs776487201
NCBI 1000 Genomes Browser:
rs776487201
Molecular consequence:
  • NM_003319.4:c.13282+26901T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+26901T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+26901T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.27104T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.28055T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.24323T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000319202Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Nov 4, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000319202.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.L8108S variant (also known as c.24323T>C) is located in coding exon 93 of the TTNgene. This alteration results from a T to C substitution at nucleotide position 24323. The leucine at codon 8108 is replaced by serine, an amino acid with dissimilar properties.This variant was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), the 1000 Genomes Project and the NHLBI Exome Sequencing Project (ESP). In the ESP, this variant was not observed in 5971 samples (11942 alleles) with coverage at this position.Based on protein sequence alignment, this amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging by PolyPhen in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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