NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) AND Primary dilated cardiomyopathy

Clinical significance:Likely benign

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001293122.1

Allele description [Variation Report for NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)]

NM_001267550.2(TTN):c.88733G>A (p.Arg29578His)

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.88733G>A (p.Arg29578His)
Other names:
p.R27937H:CGC>CAC
HGVS:
  • NC_000002.12:g.178554614C>T
  • NG_011618.3:g.281189G>A
  • NG_051363.1:g.36788C>T
  • NM_001256850.1:c.83810G>A
  • NM_001267550.2:c.88733G>AMANE SELECT
  • NM_003319.4:c.61538G>A
  • NM_133378.4:c.81029G>A
  • NM_133432.3:c.61913G>A
  • NM_133437.4:c.62114G>A
  • NP_001243779.1:p.Arg27937His
  • NP_001254479.2:p.Arg29578His
  • NP_003310.4:p.Arg20513His
  • NP_596869.4:p.Arg27010His
  • NP_597676.3:p.Arg20638His
  • NP_597681.4:p.Arg20705His
  • LRG_391:g.281189G>A
  • NC_000002.11:g.179419341C>T
Protein change:
R20513H
Links:
dbSNP: rs374147064
NCBI 1000 Genomes Browser:
rs374147064
Molecular consequence:
  • NM_001256850.1:c.83810G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.88733G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003319.4:c.61538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.81029G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133432.3:c.61913G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133437.4:c.62114G>A - missense variant - [Sequence Ontology: SO:0001583]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434112Genetics and Genomics Program,Sidra Medicinecriteria provided, single submitter
Likely benignunknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

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 Genetics and Genomics Program,Sidra Medicine, SCV001434112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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