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NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 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:
RCV002325715.1

Allele description

NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr)

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.59033T>C (p.Ile19678Thr)
Other names:
p.Ile18037Thr
HGVS:
  • NC_000002.12:g.178593175A>G
  • NG_011618.3:g.242628T>C
  • NG_051363.1:g.75349A>G
  • NM_001256850.1:c.54110T>C
  • NM_001267550.2:c.59033T>CMANE SELECT
  • NM_003319.4:c.31838T>C
  • NM_133378.4:c.51329T>C
  • NM_133432.3:c.32213T>C
  • NM_133437.4:c.32414T>C
  • NP_001243779.1:p.Ile18037Thr
  • NP_001254479.2:p.Ile19678Thr
  • NP_003310.4:p.Ile10613Thr
  • NP_596869.4:p.Ile17110Thr
  • NP_597676.3:p.Ile10738Thr
  • NP_597681.4:p.Ile10805Thr
  • LRG_391:g.242628T>C
  • NC_000002.11:g.179457902A>G
  • NM_001267550.2:c.59033T>C
  • NM_003319.4:c.31838T>C
Protein change:
I10613T
Links:
dbSNP: rs746014701
NCBI 1000 Genomes Browser:
rs746014701
Molecular consequence:
  • NM_001256850.1:c.54110T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.59033T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.31838T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.51329T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.32213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.32414T>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002609447Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Mar 4, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002609447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.I10613T variant (also known as c.31838T>C), located in coding exon 126 of the TTN gene, results from a T to C substitution at nucleotide position 31838. The isoleucine at codon 10613 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023