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NM_005159.5(ACTC1):c.808+3G>A AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2017
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:
RCV000853470.1

Allele description [Variation Report for NM_005159.5(ACTC1):c.808+3G>A]

NM_005159.5(ACTC1):c.808+3G>A

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.808+3G>A
HGVS:
  • NC_000015.10:g.34792087C>T
  • NG_007553.1:g.8640G>A
  • NM_005159.5:c.808+3G>AMANE SELECT
  • LRG_388t1:c.808+3G>A
  • LRG_388:g.8640G>A
  • NC_000015.9:g.35084288C>T
  • NM_005159.4:c.808+3G>A
  • c.808+3G>A
Links:
dbSNP: rs397517070
NCBI 1000 Genomes Browser:
rs397517070
Molecular consequence:
  • NM_005159.5:c.808+3G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000996381Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 31, 2017) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, SCV000996381.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The ACTC1 c.803+3G>A has been previously identified by one laboratory in a HCM proband and one other affected family member (LMM, Pers. Comm.). We identified this variant in a HCM proband of Lebanese ethnicity with atypical concentric hypertrophy. The variant is absent in the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/), as well as the Genome Aggregation Database (http://gnomad.broadinstitute.org/). In silico tool MaxEntScan predicts that this variant will not affect splicing. In summary, although the variant is rare in the general population, the splicing prediction tool predicts that the variant will not affect splicing and there is no other informative evidence to confirm the pathogenicity of the variant, therefore we classify ACTC1 c.803+3G>A as a variant of 'uncertain significance'.

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

Last Updated: Sep 29, 2024