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NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 4, 2012
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:
RCV003320136.8

Allele description [Variation Report for NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)]

NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)

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.1544T>C (p.Met515Thr)
HGVS:
  • NC_000014.9:g.23428534A>G
  • NG_007884.1:g.12128T>C
  • NM_000257.4:c.1544T>CMANE SELECT
  • NP_000248.2:p.Met515Thr
  • LRG_384t1:c.1544T>C
  • LRG_384:g.12128T>C
  • NC_000014.8:g.23897743A>G
  • NM_000257.2:c.1544T>C
Protein change:
M515T
Links:
dbSNP: rs863224900
NCBI 1000 Genomes Browser:
rs863224900
Molecular consequence:
  • NM_000257.4:c.1544T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600
Name:
Myosin storage myopathy (CMYP7A)
Synonyms:
MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; Scapuloperoneal myopathy, MYH7-related; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008409; MedGen: C1842160; Orphanet: 437572; OMIM: 608358
Name:
Dilated cardiomyopathy 1S (CMD1S)
Identifiers:
MONDO: MONDO:0013262; MedGen: C1834481; Orphanet: 154; Orphanet: 54260; OMIM: 613426
Name:
MYH7-related skeletal myopathy
Synonyms:
MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008050; MedGen: C4552004; Orphanet: 59135; OMIM: 160500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255419UCLA Clinical Genomics Center, UCLA - CES
criteria provided, single submitter

(Lee et al. (JAMA. 2014))		Likely pathogenic
(Dec 4, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255419.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanicnot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024