NM_016599.5(MYOZ2):c.146A>G (p.His49Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 27, 2024
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:: RCV000490177.7

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)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens cysteine rich hydrophobic domain 2 (CHIC2), mRNA
Homo sapiens cysteine rich hydrophobic domain 2 (CHIC2), mRNA
gi|332205976|ref|NM_012110.3|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576651	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 27, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576651

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 27, 2024)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000576651.8

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (PMID: 25741868); This variant is associated with the following publications: (PMID: 25741868, 30681346)

#	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: Oct 8, 2024

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