U.S. flag

An official website of the United States government

NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 20, 2016
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:
RCV000618544.3

Allele description [Variation Report for NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)]

NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)

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.967G>C (p.Ala323Pro)
HGVS:
  • NC_000015.10:g.34791137C>G
  • NG_007553.1:g.9590G>C
  • NM_005159.5:c.967G>CMANE SELECT
  • NP_005150.1:p.Ala323Pro
  • LRG_388t1:c.967G>C
  • LRG_388:g.9590G>C
  • NC_000015.9:g.35083338C>G
  • NM_005159.4:c.967G>C
Protein change:
A323P
Links:
dbSNP: rs771011464
NCBI 1000 Genomes Browser:
rs771011464
Molecular consequence:
  • NM_005159.5:c.967G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000740030Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 20, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000740030.5

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

Description

The p.A323P variant (also known as c.967G>C), located in coding exon 5 of the ACTC1 gene, results from a G to C substitution at nucleotide position 967. The alanine at codon 323 is replaced by proline, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), Exome Aggregation Consortium (ExAC) and 1000 Genomes Project. In the ESP, this variant was not observed in 6499 samples (12998 alleles) with coverage at this position. Based on internal structural analysis, this alteration disrupts the structure near a polymerization interface, and may impair fiber formation (von der Ecken J et al. Nature. 2016;534(7609):724-8). Another alteration affecting this amino acid (p.A323V, c.968C>T) has been previously detected in a patient reported to have hypertrophic cardiomyopathy who also had a variant in MYBPC3 (Maron BJ. Heart Rhythm. 2012;9(1):57-63). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024