U.S. flag

An official website of the United States government

NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 6, 2019
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:
RCV002384001.2

Allele description [Variation Report for NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile)]

NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile)
HGVS:
  • NC_000002.12:g.178640576G>A
  • NG_011618.3:g.195227C>T
  • NM_001256850.1:c.35765C>T
  • NM_001267550.2:c.40688C>TMANE SELECT
  • NM_003319.4:c.13493C>T
  • NM_133378.4:c.32984C>T
  • NM_133432.3:c.13868C>T
  • NM_133437.4:c.14069C>T
  • NP_001243779.1:p.Thr11922Ile
  • NP_001254479.2:p.Thr13563Ile
  • NP_003310.4:p.Thr4498Ile
  • NP_596869.4:p.Thr10995Ile
  • NP_597676.3:p.Thr4623Ile
  • NP_597681.4:p.Thr4690Ile
  • LRG_391t1:c.40688C>T
  • LRG_391:g.195227C>T
  • NC_000002.11:g.179505303G>A
  • NM_001267550.1:c.40688C>T
  • NM_001267550.2:c.40688C>T
Protein change:
T10995I
Links:
dbSNP: rs780572853
NCBI 1000 Genomes Browser:
rs780572853
Molecular consequence:
  • NM_001256850.1:c.35765C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.40688C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.13493C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.32984C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.13868C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.14069C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002693338Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 6, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002693338.2

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

Description

The p.T4498I variant (also known as c.13493C>T), located in coding exon 48 of the TTN gene, results from a C to T substitution at nucleotide position 13493. The threonine at codon 4498 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and isoleucine is the reference amino acid in other vertebrate 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 alteration remains unclear.

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

Last Updated: Jul 29, 2024