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NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) AND Hypertrophic cardiomyopathy 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 24, 2019
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:
RCV001537865.1

Allele description [Variation Report for NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)]

NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys)

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.2710C>T (p.Arg904Cys)
Other names:
NM_000257.4(MYH7):c.2710C>T
HGVS:
  • NC_000014.9:g.23424119G>A
  • NG_007884.1:g.16543C>T
  • NM_000257.4:c.2710C>TMANE SELECT
  • NP_000248.2:p.Arg904Cys
  • LRG_384t1:c.2710C>T
  • LRG_384:g.16543C>T
  • NC_000014.8:g.23893328G>A
  • NM_000257.2:c.2710C>T
  • NM_000257.3:c.2710C>T
Protein change:
R904C
Links:
dbSNP: rs727503253
NCBI 1000 Genomes Browser:
rs727503253
Molecular consequence:
  • NM_000257.4:c.2710C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001754770Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 24, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001754770.1

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

Description

The c.2710C>T variant in the MYH7 gene changes the arginine to a cysteine at codon 904 in the resultant protein (p.Arg904Cys). This codon lies within an important functional domain of MYH7 (amino acids 181-937). It is an evolutionarily conserved location and in-silico tools predict this change to be damaging. This particular variant has been reported in multiple individuals with dilated cardiomyopathy and segregates within families (PMID: 27532257, 20573160). In addition, a different missense substitution at this same codon (p.Arg904His) is considered pathogenic. It is an extremely rare variant having been seen in 1/251442 (0.000398%) individuals in gnomAD. According to ClinGen's Inherited Cardiomyopathy Expert Panel guidelines for interpretation of MYH7 (PMID: 29300372), this variant is considered pathogenic.

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

Last Updated: Nov 3, 2024