NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) AND Dilated cardiomyopathy 1G

Clinical significance:Pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000986937.1

Allele description [Variation Report for NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)]

NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)

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.95185T>C (p.Trp31729Arg)
Other names:
Q8WZ42.4:p.Trp30088Arg
HGVS:
  • NC_000002.12:g.178546051A>G
  • NG_011618.3:g.289752T>C
  • NG_051363.1:g.28225A>G
  • NM_001256850.1:c.90262T>C
  • NM_001267550.2:c.95185T>CMANE SELECT
  • NM_003319.4:c.67990T>C
  • NM_133378.4:c.87481T>C
  • NM_133432.3:c.68365T>C
  • NM_133437.4:c.68566T>C
  • NP_001243779.1:p.Trp30088Arg
  • NP_001254479.2:p.Trp31729Arg
  • NP_003310.4:p.Trp22664Arg
  • NP_596869.4:p.Trp29161Arg
  • NP_597676.3:p.Trp22789Arg
  • NP_597681.4:p.Trp22856Arg
  • AJ277892.2:g.274426T>C
  • LRG_391:g.289752T>C
  • NC_000002.11:g.179410778A>G
Protein change:
W22664R
Links:
dbSNP: rs869320741
NCBI 1000 Genomes Browser:
rs869320741
Molecular consequence:
  • NM_001256850.1:c.90262T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.95185T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.67990T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.87481T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.68365T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.68566T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1G (CMD1G)
Identifiers:
MONDO: MONDO:0011400; MedGen: C1858763; Orphanet: 154; OMIM: 604145

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001136096Mendelicscriteria provided, single submitter
Pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001136096.1

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

Last Updated: Oct 7, 2021

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