NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 29, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000218257.3

Allele description [Variation Report for NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)]

NM_001267550.2(TTN):c.68823C>T (p.Tyr22941=)

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.68823C>T (p.Tyr22941=)
HGVS:
  • NC_000002.12:g.178577603G>A
  • NG_011618.3:g.258200C>T
  • NG_051363.1:g.59777G>A
  • NM_001256850.1:c.63900C>T
  • NM_001267550.2:c.68823C>TMANE SELECT
  • NM_003319.4:c.41628C>T
  • NM_133378.4:c.61119C>T
  • NM_133432.3:c.42003C>T
  • NM_133437.4:c.42204C>T
  • NP_001243779.1:p.Tyr21300=
  • NP_001254479.2:p.Tyr22941=
  • NP_003310.4:p.Tyr13876=
  • NP_596869.4:p.Tyr20373=
  • NP_597676.3:p.Tyr14001=
  • NP_597681.4:p.Tyr14068=
  • LRG_391:g.258200C>T
  • NC_000002.11:g.179442330G>A
  • p.Tyr20373Tyr
Links:
dbSNP: rs200717463
NCBI 1000 Genomes Browser:
rs200717463
Molecular consequence:
  • NM_001256850.1:c.63900C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.68823C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.41628C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.61119C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.42003C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.42204C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000272738Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jan 29, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000272738.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.Tyr20373Tyr v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 3/115068 chromosomes from several populations by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2 00717463). Although this variant does not alter an amino acid residue, this vari ant is located in the last three bases of the exon, which is part of the 5? spli ce region. Computational tools do not suggest an impact to splicing. However, th is information is not predictive enough to rule out pathogenicity. In summary, w hile the clinical significance of the p.Tyr20373Tyr variant is uncertain, the fa ct that it does not alter an amino acid residue and that it is not predicted to alter splicing suggests that it is more likely to be benign.

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

Last Updated: Aug 17, 2021

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