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NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND Hypertrophic cardiomyopathy 1

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000201434.2

Allele description [Variation Report for NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)]

NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
Other names:
p.I263T:ATA>ACA; NM_000257.3(MYH7):c.788T>C
HGVS:
  • NC_000014.9:g.23431426A>G
  • NG_007884.1:g.9236T>C
  • NM_000257.4:c.788T>CMANE SELECT
  • NP_000248.2:p.Ile263Thr
  • LRG_384t1:c.788T>C
  • LRG_384:g.9236T>C
  • NC_000014.8:g.23900635A>G
  • NM_000257.2:c.788T>C
  • NM_000257.3:c.788T>C
  • P12883:p.Ile263Thr
  • c.788T>C
Protein change:
I263T
Links:
UniProtKB: P12883#VAR_004571; dbSNP: rs397516269
NCBI 1000 Genomes Browser:
rs397516269
Molecular consequence:
  • NM_000257.4:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
9

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256142Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)
criteria provided, single submitter

(LGCM Criteria August 2015)		Likely pathogenicgermlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

LGCM_Criteria_August_2015

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes9not providednot providednot providednot providedclinical testing

Citations

PubMed

Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

Tesson F, Richard P, Charron P, Mathieu B, Cruaud C, Carrier L, Dubourg O, Lautié N, Desnos M, Millaire A, Isnard R, Hagege AA, Bouhour JB, Bennaceur M, Hainque B, Guicheney P, Schwartz K, Komajda M.

Hum Mutat. 1998;12(6):385-92.

PubMed [citation]
PMID:
9829907

Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

Brito D, Richard P, Isnard R, Pipa J, Komajda M, Madeira H.

Rev Port Cardiol. 2003 Dec;22(12):1445-61. English, Portuguese. Erratum in: Rev Port Cardiol. 2004 Jan;23(1):142.

PubMed [citation]
PMID:
15008060
See all PubMed Citations (3)

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256142.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided9not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided9not providednot providednot provided

Last Updated: Sep 29, 2024