NM_005159.5(ACTC1):c.523dup (p.His175fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 6, 2013
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:: RCV000157774.1

Allele description [Variation Report for NM_005159.5(ACTC1):c.523dup (p.His175fs)]

NM_005159.5(ACTC1):c.523dup (p.His175fs)

Genes:

GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q14

Genomic location:

Preferred name:

NM_005159.5(ACTC1):c.523dup (p.His175fs)

HGVS:

NC_000015.10:g.34792504dup
NG_007553.1:g.8226dup
NM_005159.5:c.523dupMANE SELECT
NP_005150.1:p.His175fs
LRG_388t1:c.523dup
LRG_388:g.8226dup
NC_000015.9:g.35084701_35084702insG
NC_000015.9:g.35084705dup
NM_005159.4:c.523dup
NM_005159.4:c.523dupC
p.H175PfsX15

Protein change:

H175fs

Links:

dbSNP: rs730880389

NCBI 1000 Genomes Browser:

rs730880389

Molecular consequence:

NM_005159.5:c.523dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000207704	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Aug 6, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000207704

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Aug 6, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000207704.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.523dupC variant in the ACTC1 gene has not been reported as a disease-causing mutation or as a benign change to our knowledge. This variant causes a shift in reading frame starting at codon Histidine 175, changing it to a Proline, and creating a premature stop codon at position 15of the new reading frame, denoted p.His175ProfsX15. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Nevertheless, no frameshift or nonsense mutations have been reported in the ACTC1 gene in association with cardiomyopathy.With the clinical and molecular information available at this time, we cannot definitively determine if c.523dupC is a disease-causing mutation or a rare benign variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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