NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) AND ACTN2-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 14, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004549383.2

Allele description [Variation Report for NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)]

NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)

Gene:

ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q43

Genomic location:

Preferred name:

NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)

Other names:

p.Q9R:CAG>CGG

HGVS:

NC_000001.11:g.236686699A>G
NG_009081.2:g.27559A>G
NM_001103.4:c.26A>GMANE SELECT
NM_001278343.2:c.26A>G
NM_001278344.2:c.-796A>G
NP_001094.1:p.Gln9Arg
NP_001094.1:p.Gln9Arg
NP_001265272.1:p.Gln9Arg
LRG_436t1:c.26A>G
LRG_436:g.27559A>G
LRG_436p1:p.Gln9Arg
NC_000001.10:g.236849999A>G
NG_009081.1:g.5230A>G
NM_001103.2:c.26A>G
NM_001103.3:c.26A>G
NM_001278344.1:c.-796A>G
P35609:p.Gln9Arg
c.26A>G

Protein change:

Q9R; GLN9ARG

Links:

UniProtKB: P35609#VAR_054628; OMIM: 102573.0001; dbSNP: rs121434525

NCBI 1000 Genomes Browser:

rs121434525

Molecular consequence:

NM_001278344.2:c.-796A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001103.4:c.26A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001278343.2:c.26A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: ACTN2-related disorder
Synonyms:: ACTN2-related disorders; ACTN2 related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004743314	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Sep 14, 2022)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004743314

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Sep 14, 2022)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004743314.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Jan 19, 2025

ClinVar

Relating variation to medicine