NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) AND Hypertrophic cardiomyopathy

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001293146.1

Allele description [Variation Report for NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)]

NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)

Gene:
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met)
Other names:
p.T8526M:ACG>ATG
HGVS:
  • NC_000002.12:g.178714130G>A
  • NG_011618.3:g.121673C>T
  • NM_001256850.1:c.25577C>T
  • NM_001267550.2:c.26528C>TMANE SELECT
  • NM_003319.4:c.13282+23952C>T
  • NM_133378.4:c.22796C>T
  • NM_133432.3:c.13657+23952C>T
  • NM_133437.4:c.13858+23952C>T
  • NP_001243779.1:p.Thr8526Met
  • NP_001254479.2:p.Thr8843Met
  • NP_596869.4:p.Thr7599Met
  • LRG_391t1:c.26528C>T
  • LRG_391:g.121673C>T
  • NC_000002.11:g.179578857G>A
  • NM_001267550.1:c.26528C>T
  • c.22796C>T
Protein change:
T7599M
Links:
dbSNP: rs72648990
NCBI 1000 Genomes Browser:
rs72648990
Molecular consequence:
  • NM_003319.4:c.13282+23952C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133432.3:c.13657+23952C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_133437.4:c.13858+23952C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001256850.1:c.25577C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001267550.2:c.26528C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_133378.4:c.22796C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; OMIM: PS192600; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434136Genetics and Genomics Program,Sidra Medicinecriteria provided, single submitter
Uncertain significanceunknownresearch

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, SCV001434136.1

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

Last Updated: Sep 6, 2021

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