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NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 26, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000617568.3

Allele description [Variation Report for NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)]

NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)

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.85315C>T (p.Arg28439Trp)
HGVS:
  • NC_000002.12:g.178560817G>A
  • NG_011618.3:g.274986C>T
  • NG_051363.1:g.42991G>A
  • NM_001256850.1:c.80392C>T
  • NM_001267550.2:c.85315C>TMANE SELECT
  • NM_003319.4:c.58120C>T
  • NM_133378.4:c.77611C>T
  • NM_133432.3:c.58495C>T
  • NM_133437.4:c.58696C>T
  • NP_001243779.1:p.Arg26798Trp
  • NP_001254479.2:p.Arg28439Trp
  • NP_003310.4:p.Arg19374Trp
  • NP_596869.4:p.Arg25871Trp
  • NP_597676.3:p.Arg19499Trp
  • NP_597681.4:p.Arg19566Trp
  • LRG_391:g.274986C>T
  • NC_000002.11:g.179425544G>A
  • NM_133378.4:c.77611C>T
Protein change:
R19374W
Links:
dbSNP: rs757653038
NCBI 1000 Genomes Browser:
rs757653038
Molecular consequence:
  • NM_001256850.1:c.80392C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.85315C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.58120C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.77611C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.58495C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.58696C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000737077Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 26, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000737077.5

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

Description

The p.R19374W variant (also known as c.58120C>T), located in coding exon 153 of the TTN gene, results from a C to T substitution at nucleotide position 58120, and is located in the A-band region of the titin protein. The arginine at codon 19374 is replaced by tryptophan, an amino acid with dissimilar properties. Based on data from ExAC, the T allele was reported in 2 of 120170 (0.002%) total alleles (Exome Aggregation Consortium (ExAC), Cambridge, MA (URL: http://exac.broadinstitute.org) [Accessed March 24, 2016]). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6097 samples (12194 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024