NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 22, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000040330.5

Allele description [Variation Report for NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)]

NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly)

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.52144A>G (p.Arg17382Gly)
HGVS:
  • NC_000002.12:g.178608867T>C
  • NG_011618.3:g.226936A>G
  • NG_051363.1:g.91041T>C
  • NM_001256850.1:c.47221A>G
  • NM_001267550.2:c.52144A>GMANE SELECT
  • NM_003319.4:c.24949A>G
  • NM_133378.4:c.44440A>G
  • NM_133432.3:c.25324A>G
  • NM_133437.4:c.25525A>G
  • NP_001243779.1:p.Arg15741Gly
  • NP_001254479.2:p.Arg17382Gly
  • NP_003310.4:p.Arg8317Gly
  • NP_596869.4:p.Arg14814Gly
  • NP_597676.3:p.Arg8442Gly
  • NP_597681.4:p.Arg8509Gly
  • LRG_391:g.226936A>G
  • NC_000002.11:g.179473594T>C
  • c.44440A>G
Protein change:
R14814G
Links:
dbSNP: rs397517607
NCBI 1000 Genomes Browser:
rs397517607
Molecular consequence:
  • NM_001256850.1:c.47221A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.52144A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.24949A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.44440A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.25324A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.25525A>G - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000064021Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Aug 22, 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, SCV000064021.6

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

Description

The Arg14814Gly variant in TTN has not been reported in the literature nor previ ously identified in our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. Additional studies are needed to fully assess the cli nical significance of this variant.

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

Last Updated: Nov 27, 2021

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