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NM_005159.5(ACTC1):c.455-7C>T AND ACTC1-related disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 29, 2023
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:
RCV003970104.2

Allele description [Variation Report for NM_005159.5(ACTC1):c.455-7C>T]

NM_005159.5(ACTC1):c.455-7C>T

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.455-7C>T
HGVS:
  • NC_000015.10:g.34792576G>A
  • NG_007553.1:g.8151C>T
  • NM_005159.5:c.455-7C>TMANE SELECT
  • LRG_388t1:c.455-7C>T
  • LRG_388:g.8151C>T
  • NC_000015.9:g.35084777G>A
  • NM_005159.4:c.455-7C>T
Links:
dbSNP: rs768363857
NCBI 1000 Genomes Browser:
rs768363857
Molecular consequence:
  • NM_005159.5:c.455-7C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

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  • LOC118360489 [Oncorhynchus keta]
    LOC118360489 [Oncorhynchus keta]
    Gene ID:118360489
    Gene
  • Major Histocompatibility Complex
    Major Histocompatibility Complex
    The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes...<br/>Year introduced: 1979
    MeSH
  • Macrophage Activation
    Macrophage Activation
    The process of altering the morphology and functional activity of macrophages so that they become avidly phagocytic. It is initiated by lymphokines, such as the macrophage act...<br/>Year introduced: 1982
    MeSH
  • Opsonization
    Opsonization
    The process of recognizing and targeting particles by binding with OPSONINS (e.g., IgM, C1 and IgG) for phagocytosis or for antibody-dependent cell cytotoxicity....<br/>Year introduced: 2022
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004778553PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely benign
(Sep 29, 2023) 		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, SCV004778553.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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

Last Updated: Oct 13, 2024