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NM_005159.5(ACTC1):c.809-58TG[17] AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 13, 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:
RCV001194108.1

Allele description [Variation Report for NM_005159.5(ACTC1):c.809-58TG[17]]

NM_005159.5(ACTC1):c.809-58TG[17]

Genes:
GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_005159.5(ACTC1):c.809-58TG[17]
HGVS:
  • NC_000015.10:g.34791308CA[17]
  • NG_007553.1:g.9374TG[17]
  • NM_005159.4:c.809-24_809-13del12
  • NM_005159.5:c.809-58TG[17]MANE SELECT
  • LRG_388t1:c.809-24_809-13del
  • LRG_388:g.9374TG[17]
  • NC_000015.9:g.35083509CA[17]
  • NC_000015.9:g.35083509_35083520del
  • NM_005159.4:c.809-24_809-13del
  • NM_005159.4:c.809-24_809-13del12
  • NM_005159.4:c.809-24_809-13delTGTGTGTGTGTG
Links:
dbSNP: rs59431308
NCBI 1000 Genomes Browser:
rs59431308
Molecular consequence:
  • NM_005159.5:c.809-58TG[17] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001363389Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Benign
(Aug 13, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001363389.1

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

Description

Variant summary: ACTC1 c.809-24_809-13delTGTGTGTGTGTG alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 106928 control chromosomes (gnomAD). However, the variant is located in a highly polymorphic region within a run of TG dinucleotide tandem repeats. In addition, surrounding variants with variations of TG repeats (expansions and deletions) have been classified as benign. Therefore, suggesting the region is tolerable to expansions and deletions of this dinucleotide sequence. To our knowledge, no occurrence of c.809-24_809-13del12 in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.

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

Last Updated: Oct 13, 2024