NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) AND Primary familial hypertrophic cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 7, 2015
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:: RCV000208202.1

Allele description [Variation Report for NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)]

NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)

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.1331A>G (p.Asn444Ser)

Other names:

p.N444S:AAT>AGT

HGVS:

NC_000014.9:g.23429031T>C
NG_007884.1:g.11631A>G
NM_000257.4:c.1331A>GMANE SELECT
NP_000248.2:p.Asn444Ser
LRG_384t1:c.1331A>G
LRG_384:g.11631A>G
NC_000014.8:g.23898240T>C
NM_000257.2:c.1331A>G
NM_000257.3:c.1331A>G

Protein change:

N444S

Links:

dbSNP: rs730880159

NCBI 1000 Genomes Browser:

rs730880159

Molecular consequence:

NM_000257.4:c.1331A>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264078	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Likely pathogenic (Apr 7, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264078

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Likely pathogenic
(Apr 7, 2015)

germline

clinical testing

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

Citation Link

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

Citations

PubMed

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

Roncarati R, Latronico MV, Musumeci B, Aurino S, Torella A, Bang ML, Jotti GS, Puca AA, Volpe M, Nigro V, Autore C, Condorelli G.

J Cell Physiol. 2011 Nov;226(11):2894-900. doi: 10.1002/jcp.22636.

PubMed [citation]

PMID:: 21302287
PMCID:: PMC3229838

Details of each submission

From Blueprint Genetics, SCV000264078.2

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

#	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

Last Updated: Nov 3, 2024

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