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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 9, 2021
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:
RCV002498790.1

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:
Hypertrophic cardiomyopathy 1
Synonyms:
Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600
Name:
Myopathy, myosin storage, autosomal recessive (CMYO7B)
Synonyms:
CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
Identifiers:
MONDO: MONDO:0009708; MedGen: C1850709; OMIM: 255160
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
Name:
Congenital myopathy with fiber type disproportion
Synonyms:
Congenital fiber-type disproportion myopathy; Congenital Fiber-Type Disproportion
Identifiers:
MONDO: MONDO:0009711; MedGen: C0546264; Orphanet: 2020
Name:
Dilated cardiomyopathy 1S (CMD1S)
Identifiers:
MONDO: MONDO:0013262; MedGen: C1834481; Orphanet: 154; Orphanet: 54260; OMIM: 613426
Name:
MYH7-related skeletal myopathy
Synonyms:
MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, distal, 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008050; MedGen: C4552004; Orphanet: 59135; OMIM: 160500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002781224Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 9, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002781224.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024