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NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2016
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:
RCV000158869.3

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208804GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 12, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000208804.13

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

Description

The R1677H variant in the MYH7 gene was first identified via direct sequencing of the MYBPC3 and MYH7 genes in two individuals with DCM (Waldmuller et al., 2011). This variant was also identified in the heterozygous state in another individual with DCM who was evaluated with a multi-gene panel (Berge et al., 2014). However, for all reported individuals, additional clinical information, familial segregation information, and in vitro functional studies were not included. The R1677H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The R1677H variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, it is unclear if R1677H is a pathogenic or benign variant.

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

Last Updated: Oct 8, 2024