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NM_003673.4(TCAP):c.49C>T (p.Arg17Cys) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000208505.1

Allele description [Variation Report for NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)]

NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)

Gene:
TCAP:titin-cap [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)
HGVS:
  • NC_000017.11:g.39665408C>T
  • NG_008892.1:g.5063C>T
  • NG_042278.1:g.2428C>T
  • NM_003673.4:c.49C>TMANE SELECT
  • NP_003664.1:p.Arg17Cys
  • NP_003664.1:p.Arg17Cys
  • LRG_210t1:c.49C>T
  • LRG_210:g.5063C>T
  • LRG_210p1:p.Arg17Cys
  • NC_000017.10:g.37821661C>T
  • NM_003673.3:c.49C>T
Protein change:
R17C
Links:
dbSNP: rs869025530
NCBI 1000 Genomes Browser:
rs869025530
Molecular consequence:
  • NM_003673.4:c.49C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264237Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Uncertain significance
(Jan 19, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000264237.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024