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NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly) AND Myopathy, myosin storage, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV003228795.2

Allele description [Variation Report for NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly)]

NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly)

Genes:
LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly)
Other names:
p.E1555G:GAG>GGG
HGVS:
  • NC_000014.9:g.23416293T>C
  • NG_007884.1:g.24369A>G
  • NG_086395.1:g.1148T>C
  • NM_000257.4:c.4664A>GMANE SELECT
  • NM_001407004.1:c.4664A>G
  • NP_000248.2:p.Glu1555Gly
  • NP_000248.2:p.Glu1555Gly
  • NP_001393933.1:p.Glu1555Gly
  • LRG_384t1:c.4664A>G
  • LRG_384:g.24369A>G
  • LRG_384p1:p.Glu1555Gly
  • NC_000014.8:g.23885502T>C
  • NM_000257.2:c.4664A>G
  • NR_126491.1:n.554T>C
Protein change:
E1555G; GLU1555GLY
Links:
OMIM: 160760.0050; dbSNP: rs730880805
NCBI 1000 Genomes Browser:
rs730880805
Molecular consequence:
  • NM_000257.4:c.4664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407004.1:c.4664A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.554T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Myopathy, myosin storage, autosomal recessive (CMYO7B)
Synonyms:
CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0009708; MedGen: C1850709; OMIM: 255160

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003841182OMIM
no assertion criteria provided
Pathogenic
(Jul 16, 2024) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Recessive MYH7-related myopathy in two families.

Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H.

Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12.

PubMed [citation]
PMID:
31130376

Details of each submission

From OMIM, SCV003841182.2

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

Description

For discussion of the c.4664A-G transition in the MYH7 gene, resulting in a glu1555-to-gly (E1555G) substitution, that was found in compound heterozygous state in a patient with autosomal recessive myosin storage myopathy-7B (CMYO7B; 255160) by Beecroft et al. (2019), see 160760.0049.

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

Last Updated: Jul 29, 2024