NM_001267550.2(TTN):c.23067C>T (p.Asp7689=) AND not specified

Clinical significance:Likely benign (Last evaluated: Mar 19, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000154975.4

Allele description [Variation Report for NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)]

NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=)
HGVS:
  • NC_000002.12:g.178720952G>A
  • NG_011618.3:g.114851C>T
  • NM_001256850.1:c.22116C>T
  • NM_001267550.2:c.23067C>TMANE SELECT
  • NM_003319.4:c.13282+17130C>T
  • NM_133378.4:c.19335C>T
  • NM_133432.3:c.13657+17130C>T
  • NM_133437.4:c.13858+17130C>T
  • NP_001243779.1:p.Asp7372=
  • NP_001254479.2:p.Asp7689=
  • NP_596869.4:p.Asp6445=
  • LRG_391:g.114851C>T
  • NC_000002.11:g.179585679G>A
  • p.Asp6445Asp
Links:
dbSNP: rs191854953
NCBI 1000 Genomes Browser:
rs191854953
Molecular consequence:
  • NM_003319.4:c.13282+17130C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+17130C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+17130C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.22116C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.23067C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.19335C>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
SCV000204657Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Mar 19, 2012)
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, SCV000204657.5

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

Description

p.Asp6445Asp in Exon 76 of TTN: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence. It has been identified in 1/6832 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS;).

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

Last Updated: Jul 7, 2021

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