NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser) AND Hypertrophic cardiomyopathy 1

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000201447.1

Allele description [Variation Report for NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser)]

NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser)

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.2191C>T (p.Pro731Ser)

Other names:

p.P731S:CCT>TCT

HGVS:

NC_000014.9:g.23425790G>A
NG_007884.1:g.14872C>T
NM_000257.4:c.2191C>TMANE SELECT
NP_000248.2:p.Pro731Ser
LRG_384t1:c.2191C>T
LRG_384:g.14872C>T
NC_000014.8:g.23894999G>A
NM_000257.2:c.2191C>T
NM_000257.3:c.2191C>T

Protein change:

P731S

Links:

dbSNP: rs727504299

NCBI 1000 Genomes Browser:

rs727504299

Molecular consequence:

NM_000257.4:c.2191C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000256151	Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)	criteria provided, single submitter (LGCM Criteria August 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID] LGCM_Criteria_August_2015 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256151

Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe)

criteria provided, single submitter

(LGCM Criteria August 2015)

Likely pathogenic

germline

clinical testing

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

LGCM_Criteria_August_2015

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

Marsiglia JD, Credidio FL, de Oliveira TG, Reis RF, Antunes Mde O, de Araujo AQ, Pedrosa RP, Barbosa-Ferreira JM, Mady C, Krieger JE, Arteaga-Fernandez E, Pereira Ada C.

Am Heart J. 2013 Oct;166(4):775-82. doi: 10.1016/j.ahj.2013.07.029. Epub 2013 Sep 18.

PubMed [citation]

PMID:: 24093860

Details of each submission

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - Sarcomeric Human Cardiomyopathy Registry (ShaRe), SCV000256151.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	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		4	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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