NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 3, 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:: RCV000157358.11

Allele description [Variation Report for NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)]

NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)

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.1987C>T (p.Arg663Cys)

Other names:

p.R663C:CGC>TGC

HGVS:

NC_000014.9:g.23426834G>A
NG_007884.1:g.13828C>T
NM_000257.4:c.1987C>TMANE SELECT
NP_000248.2:p.Arg663Cys
LRG_384t1:c.1987C>T
LRG_384:g.13828C>T
NC_000014.8:g.23896043G>A
NM_000257.2:c.1987C>T
NM_000257.3:c.1987C>T
P12883:p.Arg663Cys
c.1987C>T

Protein change:

R663C

Links:

UniProtKB: P12883#VAR_042798; dbSNP: rs397516127

NCBI 1000 Genomes Browser:

rs397516127

Molecular consequence:

NM_000257.4:c.1987C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:: Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:: MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

Recent activity

Clear Turn Off Turn On

Lactiplantibacillus plantarum strain HBUAS510121 16S ribosomal RNA gene, partial...
Lactiplantibacillus plantarum strain HBUAS510121 16S ribosomal RNA gene, partial sequence
gi|1401632278|gb|MH473221.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207096	Blueprint Genetics	no assertion criteria provided	Pathogenic (Sep 17, 2014)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 15358028, 15858117, 15563892, 18383048, 20350521
SCV000995885	Klaassen Lab, Charite University Medicine Berlin	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 3, 2019)	germline	research	PubMed (3) [See all records that cite these PMIDs] 25741868, 31333075, 31568572

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207096

Blueprint Genetics

no assertion criteria provided

Pathogenic
(Sep 17, 2014)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV000995885

Klaassen Lab, Charite University Medicine Berlin

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 3, 2019)

germline

research

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.

J Am Coll Cardiol. 2004 Aug 4;44(3):602-10.

PubMed [citation]

PMID:: 15358028

Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

Yu B, Sawyer NA, Caramins M, Yuan ZG, Saunderson RB, Pamphlett R, Richmond DR, Jeremy RW, Trent RJ.

J Clin Pathol. 2005 May;58(5):479-85.

PubMed [citation]

PMID:: 15858117
PMCID:: PMC1770671

See all PubMed Citations (8)

Details of each submission

From Blueprint Genetics, SCV000207096.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (5)

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

From Klaassen Lab, Charite University Medicine Berlin, SCV000995885.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (3)

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

Last Updated: May 12, 2024

ClinVar

Relating variation to medicine