NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) AND Hypertrophic cardiomyopathy 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 23, 1992
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000015149.26

Allele description [Variation Report for NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)]

NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)

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.2845G>A (p.Glu949Lys)

Other names:

NM_000257.4(MYH7):c.2845G>A

HGVS:

NC_000014.9:g.23423984C>T
NG_007884.1:g.16678G>A
NM_000257.4:c.2845G>AMANE SELECT
NP_000248.2:p.Glu949Lys
LRG_384t1:c.2845G>A
LRG_384:g.16678G>A
NC_000014.8:g.23893193C>T
NM_000257.2:c.2845G>A
P12883:p.Glu949Lys

Protein change:

E949K; GLU949LYS

Links:

UniProtKB: P12883#VAR_004598; OMIM: 160760.0007; dbSNP: rs121913629

NCBI 1000 Genomes Browser:

rs121913629

Molecular consequence:

NM_000257.4:c.2845G>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035406	OMIM	no assertion criteria provided	Pathogenic (Apr 23, 1992)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035406

OMIM

no assertion criteria provided

Pathogenic
(Apr 23, 1992)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG.

N Engl J Med. 1992 Apr 23;326(17):1108-14.

PubMed [citation]

PMID:: 1552912

Details of each submission

From OMIM, SCV000035406.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

See 160760.0002. Watkins et al. (1992) found this mutation in 1 family with familial hypertrophic cardiomyopathy (CMH1; 192600).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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