NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) AND none provided

Clinical significance:Uncertain significance (Last evaluated: Dec 9, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284965.1

Allele description [Variation Report for NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)]

NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser)
Other names:
p.C4976S:TGT>TCT
HGVS:
  • NC_000002.12:g.178729497C>G
  • NG_011618.3:g.106306G>C
  • NM_001256850.1:c.17708G>C
  • NM_001267550.2:c.18659G>CMANE SELECT
  • NM_003319.4:c.13282+8585G>C
  • NM_133378.4:c.14927G>C
  • NM_133432.3:c.13657+8585G>C
  • NM_133437.4:c.13858+8585G>C
  • NP_001243779.1:p.Cys5903Ser
  • NP_001254479.2:p.Cys6220Ser
  • NP_596869.4:p.Cys4976Ser
  • NP_596869.4:p.Cys4976Ser
  • LRG_391:g.106306G>C
  • NC_000002.11:g.179594224C>G
  • c.14927G>C
Protein change:
C4976S
Links:
dbSNP: rs191692293
NCBI 1000 Genomes Browser:
rs191692293
Molecular consequence:
  • NM_003319.4:c.13282+8585G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+8585G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+8585G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.17708G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.18659G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.14927G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001471067ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Dec 9, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001471067.1

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

Description

The TTN c.18659G>C; p.Cys6220Ser variant (rs191692293; ClinVar Variation ID: 46640) is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and has not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. Yet, evidence suggests that the vast majority of such missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Thus, the clinical significance of the p.Cys6220Ser variant cannot be determined with certainty. References: Begay RL et al. Role of Titin Missense Variants in Dilated Cardiomyopathy. J Am Heart Assoc. 2015 Nov 13;4(11). Herman DS et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012 Feb 16;366(7):619-28.

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

Last Updated: Sep 18, 2021

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