NM_005159.5(ACTC1):c.*3T>C AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 17, 2010
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:: RCV000154605.4

Allele description [Variation Report for NM_005159.5(ACTC1):c.*3T>C]

NM_005159.5(ACTC1):c.*3T>C

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.*3T>C

HGVS:

NC_000015.10:g.34790409A>G
NG_007553.1:g.10318T>C
NM_005159.5:c.*3T>CMANE SELECT
LRG_388t1:c.*3T>C
LRG_388:g.10318T>C
NC_000015.9:g.35082610A>G
NM_005159.4:c.*3T>C

Links:

dbSNP: rs727504415

NCBI 1000 Genomes Browser:

rs727504415

Molecular consequence:

NM_005159.5:c.*3T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000204278	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Dec 17, 2010)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000204278

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Dec 17, 2010)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000204278.4

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

Description

Variant classified as Uncertain Significance - Favor Benign. The *3T>C variant h as not been reported in the literature. It affects the 3rd base of the 3? untran slated region (3?UTR). Although this region can contain elements that regulate mRNA processing, there is no obvious predicted effect of this variant and there are no other pathogenic variants that have been reported in this 3?UTR region of the gene. In summary, although we cannot rule out a deleterious impact on the r egulation of splicing or translation of the ACTC gene, this variant is more like ly benign.

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

Last Updated: Dec 24, 2022

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