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NM_005159.5(ACTC1):c.189G>C (p.Lys63Asn) AND Dilated cardiomyopathy 1R

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 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:
RCV003328084.1

Allele description [Variation Report for NM_005159.5(ACTC1):c.189G>C (p.Lys63Asn)]

NM_005159.5(ACTC1):c.189G>C (p.Lys63Asn)

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.189G>C (p.Lys63Asn)
HGVS:
  • NC_000015.10:g.34793510C>G
  • NG_007553.1:g.7217G>C
  • NM_001406482.1:c.189G>C
  • NM_001406483.1:c.189G>C
  • NM_001406484.1:c.54G>C
  • NM_001406485.1:c.-200G>C
  • NM_005159.5:c.189G>CMANE SELECT
  • NP_001393411.1:p.Lys63Asn
  • NP_001393412.1:p.Lys63Asn
  • NP_001393413.1:p.Lys18Asn
  • NP_005150.1:p.Lys63Asn
  • NP_005150.1:p.Lys63Asn
  • LRG_388t1:c.189G>C
  • LRG_388:g.7217G>C
  • LRG_388p1:p.Lys63Asn
  • NC_000015.9:g.35085711C>G
  • NM_005159.4:c.189G>C
Protein change:
K18N
Molecular consequence:
  • NM_001406485.1:c.-200G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001406482.1:c.189G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406483.1:c.189G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406484.1:c.54G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005159.5:c.189G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Dilated cardiomyopathy 1R (CMD1R)
Identifiers:
MONDO: MONDO:0013261; MedGen: C3150681; Orphanet: 154; Orphanet: 54260; OMIM: 613424

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004034995KardioGenetik, Herz- und Diabeteszentrum NRW
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 27, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not 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 KardioGenetik, Herz- und Diabeteszentrum NRW, SCV004034995.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2023