NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Oct 8, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000040485.4

Allele description [Variation Report for NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)]

NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys)

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.64903C>T (p.Arg21635Cys)
HGVS:
  • NC_000002.12:g.178584738G>A
  • NG_011618.3:g.251065C>T
  • NG_051363.1:g.66912G>A
  • NM_001256850.1:c.59980C>T
  • NM_001267550.2:c.64903C>TMANE SELECT
  • NM_003319.4:c.37708C>T
  • NM_133378.4:c.57199C>T
  • NM_133432.3:c.38083C>T
  • NM_133437.4:c.38284C>T
  • NP_001243779.1:p.Arg19994Cys
  • NP_001254479.2:p.Arg21635Cys
  • NP_003310.4:p.Arg12570Cys
  • NP_596869.4:p.Arg19067Cys
  • NP_597676.3:p.Arg12695Cys
  • NP_597681.4:p.Arg12762Cys
  • LRG_391:g.251065C>T
  • NC_000002.11:g.179449465G>A
  • NR_038272.1:n.2933G>A
  • c.57199C>T
Protein change:
R12570C
Links:
dbSNP: rs201614524
NCBI 1000 Genomes Browser:
rs201614524
Molecular consequence:
  • NM_001256850.1:c.59980C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.64903C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.37708C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.57199C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.38083C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.38284C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038272.1:n.2933G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000064176Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Oct 8, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not 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, SCV000064176.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The Arg19067Cys var iant in TTN has been identified in 2/8240 European American chromosomes from a b road population by the NHLBI Exome Sequencing Project (http://evs.gs.washington. edu/EVS/). This variant was also identified in one individual with DCM who had t wo other variants, including a TTN variant inherited in cis with this variant. F amily studies suggest that the TTN variants may be less likely disease causing b ut computational analyses (biochemical amino acid properties, conservation, Alig nGVGD, PolyPhen2, and SIFT) suggest that the Arg19067Cys variant may impact the protein (please note: the accuracy of these tools is unknown and this informatio n is not predictive enough to determine pathogenicity). Additional information i s needed to fully assess the clinical significance of the Arg19067Cys variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Nov 27, 2021

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