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NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln) AND ACTC1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 9, 2024
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:
RCV003418469.7

Allele description [Variation Report for NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)]

NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)

Genes:
GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
HGVS:
  • NC_000015.10:g.34792470C>T
  • NG_007553.1:g.8257G>A
  • NM_001406482.1:c.554G>A
  • NM_001406483.1:c.554G>A
  • NM_001406484.1:c.419G>A
  • NM_001406485.1:c.113G>A
  • NM_005159.5:c.554G>AMANE SELECT
  • NP_001393411.1:p.Arg185Gln
  • NP_001393412.1:p.Arg185Gln
  • NP_001393413.1:p.Arg140Gln
  • NP_001393414.1:p.Arg38Gln
  • NP_005150.1:p.Arg185Gln
  • NP_005150.1:p.Arg185Gln
  • LRG_388t1:c.554G>A
  • LRG_388:g.8257G>A
  • LRG_388p1:p.Arg185Gln
  • NC_000015.9:g.35084671C>T
  • NM_005159.4:c.554G>A
Protein change:
R140Q
Molecular consequence:
  • NM_001406482.1:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406483.1:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406484.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406485.1:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005159.5:c.554G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ACTC1-related disorder
Synonyms:
ACTC1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004114266PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Feb 9, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114266.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ACTC1 c.554G>A variant is predicted to result in the amino acid substitution p.Arg185Gln. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant has been confirmed de novo in an individual with dilated cardiomyopathy (Internal Data, PreventionGenetics). Different nucleotide substitutions affecting the same amino acid (p.Arg185Gly and p.Arg185Trp) have been reported to have occurred de novo in individuals with dilated cardiomyopathy (Table S2, Hu et al. 2018. PubMed ID: 29095814; Table S1, Lesurf et al. 2022. PubMed ID: 35288587). This variant is classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024