U.S. flag

An official website of the United States government

NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 3, 2022
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:
RCV002484975.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)]

NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)

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.3883G>A (p.Glu1295Lys)
Other names:
p.E1295K:GAG>AAG; NM_000257.4(MYH7):c.3883G>A; p.Glu1295Lys
HGVS:
  • NC_000014.9:g.23419266C>T
  • NG_007884.1:g.21396G>A
  • NM_000257.4:c.3883G>AMANE SELECT
  • NP_000248.2:p.Glu1295Lys
  • LRG_384t1:c.3883G>A
  • LRG_384:g.21396G>A
  • NC_000014.8:g.23888475C>T
  • NM_000257.2:c.3883G>A
  • NM_000257.3:c.3883G>A
Protein change:
E1295K
Links:
dbSNP: rs730880785
NCBI 1000 Genomes Browser:
rs730880785
Molecular consequence:
  • NM_000257.4:c.3883G>A - 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
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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002777907Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 3, 2022) 		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, SCV002777907.1

#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 3, 2024