NM_001267550.2(TTN):c.2744G>A (p.Arg915His) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Jul 8, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000246716.1

Allele description [Variation Report for NM_001267550.2(TTN):c.2744G>A (p.Arg915His)]

NM_001267550.2(TTN):c.2744G>A (p.Arg915His)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
Other names:
p.R915H:CGC>CAC
HGVS:
  • NC_000002.12:g.178784101C>T
  • NG_011618.3:g.51702G>A
  • NM_001256850.1:c.2744G>A
  • NM_001267550.2:c.2744G>AMANE SELECT
  • NM_003319.4:c.2606G>A
  • NM_133378.4:c.2744G>A
  • NM_133379.5:c.2744G>A
  • NM_133432.3:c.2606G>A
  • NM_133437.4:c.2606G>A
  • NP_001243779.1:p.Arg915His
  • NP_001254479.2:p.Arg915His
  • NP_003310.4:p.Arg869His
  • NP_596869.4:p.Arg915His
  • NP_596870.2:p.Arg915His
  • NP_597676.3:p.Arg869His
  • NP_597681.4:p.Arg869His
  • LRG_391t1:c.2744G>A
  • LRG_391:g.51702G>A
  • NC_000002.11:g.179648828C>T
  • NM_001267550.1:c.2744G>A
Protein change:
R869H
Links:
dbSNP: rs376922544
NCBI 1000 Genomes Browser:
rs376922544
Molecular consequence:
  • NM_001256850.1:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.2606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133379.5:c.2744G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.2606G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.2606G>A - 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
SCV000317533Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jul 8, 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, SCV000317533.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

​The p.R915H variant (also known as c.2744G>A) is located in coding exon 15 of the TTN gene. This alteration results from a G to A substitution at nucleotide position 2744. The arginine at codon 915 is replaced by histidine, an amino acid with some similar properties. Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.01% (1/13,006), having been observed in 0.0% (0/4406) of African American alleles, and in 0.01% (1/8600) of European American alleles studied. Based on protein sequence alignment in available species, this amino acid position is poorly conserved, and histidine is the reference amino acid in conserved in 12 species. In addition, this alteration is predicted to be tolerated by 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: Oct 6, 2021

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