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

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 26, 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:
RCV000769743.4

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:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000901165CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(May 26, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000901165.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 19, 2025