NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) AND Primary familial dilated cardiomyopathy

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000845449.2

Allele description [Variation Report for NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)]

NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)

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.93166C>T (p.Arg31056Ter)
HGVS:
  • NC_000002.12:g.178548460G>A
  • NG_011618.3:g.287343C>T
  • NG_051363.1:g.30634G>A
  • NM_001256850.1:c.88243C>T
  • NM_001267550.2:c.93166C>TMANE SELECT
  • NM_003319.4:c.65971C>T
  • NM_133378.4:c.85462C>T
  • NM_133432.3:c.66346C>T
  • NM_133437.4:c.66547C>T
  • NP_001243779.1:p.Arg29415Ter
  • NP_001254479.2:p.Arg31056Ter
  • NP_003310.4:p.Arg21991Ter
  • NP_596869.4:p.Arg28488Ter
  • NP_597676.3:p.Arg22116Ter
  • NP_597681.4:p.Arg22183Ter
  • LRG_391t1:c.93166C>T
  • LRG_391:g.287343C>T
  • NC_000002.11:g.179413187G>A
Protein change:
R21991*
Links:
dbSNP: rs72648250
NCBI 1000 Genomes Browser:
rs72648250
Molecular consequence:
  • NM_001256850.1:c.88243C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001267550.2:c.93166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003319.4:c.65971C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133378.4:c.85462C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133432.3:c.66346C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_133437.4:c.66547C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Primary familial dilated cardiomyopathy (FDC)
Synonyms:
Familial dilated cardiomyopathy; CARDIOMYOPATHY, FAMILIAL DILATED, 1; Hypokinetic dilated cardiomyopathy, familial
Identifiers:
MONDO: MONDO:0016333; MedGen: C0340427; Orphanet: 217607; OMIM: PS115200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000987534Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institutecriteria provided, single submitter
Pathogenicgermlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute, SCV000987534.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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