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

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 31, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001176078.6

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]
Observations:
2

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001339916Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 25, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV004829632All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(May 31, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot provided108544not providedclinical testing

Citations

PubMed

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

Waldmüller S, Erdmann J, Binner P, Gelbrich G, Pankuweit S, Geier C, Timmermann B, Haremza J, Perrot A, Scheer S, Wachter R, Schulze-Waltrup N, Dermintzoglou A, Schönberger J, Zeh W, Jurmann B, Brodherr T, Börgel J, Farr M, Milting H, Blankenfeldt W, Reinhardt R, et al.

Eur J Heart Fail. 2011 Nov;13(11):1185-92. doi: 10.1093/eurjhf/hfr074. Epub 2011 Jul 12.

PubMed [citation]
PMID:
21750094

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE, Leren TP.

Clin Genet. 2014 Oct;86(4):355-60. doi: 10.1111/cge.12286. Epub 2013 Oct 23.

PubMed [citation]
PMID:
24111713
See all PubMed Citations (5)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001339916.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This missense variant replaces arginine with histidine at codon 1677 of the MYH7 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two individuals affected with dilated cardiomyopathy (PMID: 21750094), in an individual affected with hypertrophic cardiomyopathy (PMID: 24111713, 28971120), and in an individual affected with left ventricular noncompaction (PMID: 30188508). This variant has been identified in 6/282764 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

From All of Us Research Program, National Institutes of Health, SCV004829632.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (5)

Description

This missense variant replaces arginine with histidine at codon 1677 of the MYH7 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two individuals affected with dilated cardiomyopathy (PMID: 21750094), in an individual affected with hypertrophic cardiomyopathy (PMID: 24111713, 28971120), and in an individual affected with left ventricular noncompaction (PMID: 30188508). This variant has been identified in 6/282764 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided2not providednot providednot provided

Last Updated: Nov 10, 2024