NM_016599.5(MYOZ2):c.146A>G (p.His49Arg) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 15, 2023
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:: RCV002395187.2

Allele description [Variation Report for NM_016599.5(MYOZ2):c.146A>G (p.His49Arg)]

NM_016599.5(MYOZ2):c.146A>G (p.His49Arg)

Gene:

MYOZ2:myozenin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q26

Genomic location:

Preferred name:

NM_016599.5(MYOZ2):c.146A>G (p.His49Arg)

HGVS:

NC_000004.12:g.119150941A>G
NG_029747.1:g.20158A>G
NM_016599.5:c.146A>GMANE SELECT
NP_057683.1:p.His49Arg
NP_057683.1:p.His49Arg
LRG_396t1:c.146A>G
LRG_396:g.20158A>G
LRG_396p1:p.His49Arg
NC_000004.11:g.120072096A>G
NM_016599.4:c.146A>G

Protein change:

H49R

Links:

dbSNP: rs148908208

NCBI 1000 Genomes Browser:

rs148908208

Molecular consequence:

NM_016599.5:c.146A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002702186	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002702186

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 15, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002702186.2

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

Description

The p.H49R variant (also known as c.146A>G), located in coding exon 2 of the MYOZ2 gene, results from an A to G substitution at nucleotide position 146. The histidine at codon 49 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024

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