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NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) AND MYH7-related skeletal myopathy

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000192205.11

Allele description [Variation Report for NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)]

NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)

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.5740G>A (p.Glu1914Lys)
Other names:
NM_000257.3(MYH7):c.5740G>A; NM_000257.4(MYH7):c.5740G>A
HGVS:
  • NC_000014.9:g.23413809C>T
  • NG_007884.1:g.26853G>A
  • NM_000257.4:c.5740G>AMANE SELECT
  • NP_000248.2:p.Glu1914Lys
  • NP_000248.2:p.Glu1914Lys
  • LRG_384t1:c.5740G>A
  • LRG_384:g.26853G>A
  • NC_000014.8:g.23883018C>T
  • NM_000257.2:c.5740G>A
  • NM_000257.3:c.5740G>A
  • c.5740G>A
Protein change:
E1914K
Links:
dbSNP: rs397516254
NCBI 1000 Genomes Browser:
rs397516254
Molecular consequence:
  • NM_000257.4:c.5740G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000223112GeneReviews
no classification provided
not providedgermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, et al.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

PubMed [citation]
PMID:
24664454
PMCID:
PMC4112555

Details of each submission

From GeneReviews, SCV000223112.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Associated with cardiac transplant at age 3 and 3.5 yrs

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2024