NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Sep 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000620418.1

Allele description [Variation Report for NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)]

NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)

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.70102A>G (p.Ile23368Val)
Other names:
p.I21727V:ATT>GTT
HGVS:
  • NC_000002.12:g.178576030T>C
  • NG_011618.3:g.259773A>G
  • NG_051363.1:g.58204T>C
  • NM_001256850.1:c.65179A>G
  • NM_001267550.2:c.70102A>GMANE SELECT
  • NM_003319.4:c.42907A>G
  • NM_133378.4:c.62398A>G
  • NM_133432.3:c.43282A>G
  • NM_133437.4:c.43483A>G
  • NP_001243779.1:p.Ile21727Val
  • NP_001254479.2:p.Ile23368Val
  • NP_003310.4:p.Ile14303Val
  • NP_596869.4:p.Ile20800Val
  • NP_597676.3:p.Ile14428Val
  • NP_597681.4:p.Ile14495Val
  • LRG_391:g.259773A>G
  • NC_000002.11:g.179440757T>C
  • p.Ile21727Val
Protein change:
I14303V
Links:
dbSNP: rs367914610
NCBI 1000 Genomes Browser:
rs367914610
Molecular consequence:
  • NM_001256850.1:c.65179A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.70102A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.42907A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.62398A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.43282A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.43483A>G - 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
SCV000736014Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Sep 6, 2017)
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, SCV000736014.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.I14303V variant (also known as c.42907A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 42907. The isoleucine at codon 14303 is replaced by valine, an amino acid with highly 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: Oct 6, 2021

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