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NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND MYH7-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 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:
RCV004528899.3

Allele description [Variation Report for NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)]

NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)

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.5030G>A (p.Arg1677His)
Other names:
p.R1677H:CGC>CAC
HGVS:
  • NC_000014.9:g.23415756C>T
  • NG_007884.1:g.24906G>A
  • NM_000257.4:c.5030G>AMANE SELECT
  • NP_000248.2:p.Arg1677His
  • LRG_384t1:c.5030G>A
  • LRG_384:g.24906G>A
  • NC_000014.8:g.23884965C>T
  • NM_000257.2:c.5030G>A
  • NM_000257.3:c.5030G>A
  • NR_126491.1:n.188C>T
Protein change:
R1677H
Links:
dbSNP: rs730880914
NCBI 1000 Genomes Browser:
rs730880914
Molecular consequence:
  • NM_000257.4:c.5030G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126491.1:n.188C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
MYH7-related disorder
Synonyms:
MYH7-related condition; MYH7-Related Disorders; MYH7-related disease
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004106270PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Aug 14, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004106270.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MYH7 c.5030G>A variant is predicted to result in the amino acid substitution p.Arg1677His. This variant was reported in individuals with dilated cardiomyopathy, hypertrophic cardiomyopathy, or left ventricular noncompaction (Table S1, Waldmüller et al. 2011. PubMed ID: 21750094; Bergeet al. 2014. PubMed ID: 24111713; Dejgaard et al. 2017. PubMed ID: 28971120; Table S3, Takasaki et al. 2018. PubMed ID: 30188508; Table S5, Hirono et al. 2020. PubMed ID: 32600061). However, this variant was also documented in the general population (Table S2, Dewar et al. 2017. PubMed ID: 28807990; Table S6, Park et al. 2022. PubMed ID: 34542152). This variant is reported in 0.0046% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as a variant of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/181393/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 10, 2024