NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Nov 15, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000617756.1

Allele description [Variation Report for NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)]

NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)

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.82684T>C (p.Tyr27562His)
HGVS:
  • NC_000002.12:g.178563448A>G
  • NG_011618.3:g.272355T>C
  • NG_051363.1:g.45622A>G
  • NM_001256850.1:c.77761T>C
  • NM_001267550.2:c.82684T>CMANE SELECT
  • NM_003319.4:c.55489T>C
  • NM_133378.4:c.74980T>C
  • NM_133432.3:c.55864T>C
  • NM_133437.4:c.56065T>C
  • NP_001243779.1:p.Tyr25921His
  • NP_001254479.2:p.Tyr27562His
  • NP_003310.4:p.Tyr18497His
  • NP_596869.4:p.Tyr24994His
  • NP_597676.3:p.Tyr18622His
  • NP_597681.4:p.Tyr18689His
  • LRG_391:g.272355T>C
  • NC_000002.11:g.179428175A>G
Protein change:
Y18497H
Links:
dbSNP: rs376616067
NCBI 1000 Genomes Browser:
rs376616067
Molecular consequence:
  • NM_001256850.1:c.77761T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.82684T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.55489T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.74980T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.55864T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.56065T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000736493Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Nov 15, 2018)
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, SCV000736493.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Y18497H variant (also known as c.55489T>C), located in coding exon 153 of the TTN gene, results from a T to C substitution at nucleotide position 55489. The tyrosine at codon 18497 is replaced by histidine, an amino acid with some similar properties. This amino acid position is well 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 variant remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

Support Center