NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 27, 2022
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:: RCV002355435.2

Allele description [Variation Report for NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)]

NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)

Gene:

MYOZ2:myozenin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q26

Genomic location:

Preferred name:

NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)

HGVS:

NC_000004.12:g.119164217C>G
NG_029747.1:g.33434C>G
NM_016599.5:c.383C>GMANE SELECT
NP_057683.1:p.Ser128Cys
NP_057683.1:p.Ser128Cys
LRG_396t1:c.383C>G
LRG_396:g.33434C>G
LRG_396p1:p.Ser128Cys
NC_000004.11:g.120085372C>G
NM_016599.4:c.383C>G

Protein change:

S128C

Molecular consequence:

NM_016599.5:c.383C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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deoxyuridine 5'-triphosphate nucleotidohydrolase [Ruegeria pomeroyi DSS-3]
deoxyuridine 5'-triphosphate nucleotidohydrolase [Ruegeria pomeroyi DSS-3]
gi|56695324|gnl|REF_tigr|SPO0409|re 165672.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002623567	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 27, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002623567

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 27, 2022)

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, SCV002623567.2

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

Description

The p.S128C variant (also known as c.383C>G), located in coding exon 4 of the MYOZ2 gene, results from a C to G substitution at nucleotide position 383. The serine at codon 128 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. 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: May 1, 2024

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