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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 1, 2019
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:: RCV000245795.4

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:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000318692	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Nov 1, 2019)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 14567970, 23299917, 23861362, 24503780, 26899768, 27896284 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000318692

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Nov 1, 2019)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

Citations

PubMed

Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15.

PubMed [citation]

PMID:: 14567970

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS.

Eur J Hum Genet. 2013 Sep;21(9):918-28. doi: 10.1038/ejhg.2012.283. Epub 2013 Jan 9.

PubMed [citation]

PMID:: 23299917
PMCID:: PMC3746259

See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000318692.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Dec 28, 2024

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