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NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro) AND Myosin storage myopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 2020
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:
RCV003320243.8

Allele description [Variation Report for NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)]

NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro)

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.4978G>C (p.Ala1660Pro)
HGVS:
  • NC_000014.9:g.23415808C>G
  • NG_007884.1:g.24854G>C
  • NM_000257.4:c.4978G>CMANE SELECT
  • NP_000248.2:p.Ala1660Pro
  • LRG_384:g.24854G>C
  • NC_000014.8:g.23885017C>G
  • NM_000257.3:c.4978G>C
  • NR_126491.1:n.240C>G
Protein change:
A1660P
Links:
dbSNP: rs1892176969
NCBI 1000 Genomes Browser:
rs1892176969
Molecular consequence:
  • NM_000257.4:c.4978G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.240C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Myosin storage myopathy (CMYO7A)
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001429334Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 12, 2020) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001429334.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant was identified as de novo (maternity and paternity confirmed).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024