NM_001267550.2(TTN):c.1449C>T (p.Ala483=) AND not specified

Clinical significance:Likely benign (Last evaluated: Dec 20, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000152526.4

Allele description [Variation Report for NM_001267550.2(TTN):c.1449C>T (p.Ala483=)]

NM_001267550.2(TTN):c.1449C>T (p.Ala483=)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.1449C>T (p.Ala483=)
HGVS:
  • NC_000002.12:g.178793491G>A
  • NG_011618.3:g.42312C>T
  • NM_001256850.1:c.1449C>T
  • NM_001267550.2:c.1449C>TMANE SELECT
  • NM_003319.4:c.1449C>T
  • NM_133378.4:c.1449C>T
  • NM_133379.5:c.1449C>T
  • NM_133432.3:c.1449C>T
  • NM_133437.4:c.1449C>T
  • NP_001243779.1:p.Ala483=
  • NP_001254479.2:p.Ala483=
  • NP_003310.4:p.Ala483=
  • NP_596869.4:p.Ala483=
  • NP_596870.2:p.Ala483=
  • NP_597676.3:p.Ala483=
  • NP_597681.4:p.Ala483=
  • LRG_391:g.42312C>T
  • NC_000002.11:g.179658218G>A
  • p.Ala483Ala
Links:
dbSNP: rs141617218
NCBI 1000 Genomes Browser:
rs141617218
Molecular consequence:
  • NM_001256850.1:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133379.5:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.1449C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.1449C>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
SCV000201716Laboratory 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]

SCV000535205GeneDxcriteria provided, single submitter
Likely benign
(Dec 20, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
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, SCV000201716.5

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

Description

Ala483Ala in exon 9 of TTN: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/7020 European Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS; dbSNP rs141617218). Ala483Ala in exon 9 of TTN (rs141617218; allele fre quency = 3/7020) **

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

From GeneDx, SCV000535205.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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