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NM_001100.4(ACTA1):c.1060T>C (p.Phe354Leu) AND ACTA1-related myopathies

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 28, 2020
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:
RCV001733824.1

Allele description [Variation Report for NM_001100.4(ACTA1):c.1060T>C (p.Phe354Leu)]

NM_001100.4(ACTA1):c.1060T>C (p.Phe354Leu)

Gene:
ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_001100.4(ACTA1):c.1060T>C (p.Phe354Leu)
HGVS:
  • NC_000001.11:g.229431573A>G
  • NG_006672.1:g.7524T>C
  • NM_001100.4:c.1060T>CMANE SELECT
  • NP_001091.1:p.Phe354Leu
  • LRG_429t1:c.1060T>C
  • LRG_429:g.7524T>C
  • NC_000001.10:g.229567320A>G
  • NM_001100.3:c.1060T>C
Protein change:
F354L
Links:
dbSNP: rs2102735014
NCBI 1000 Genomes Browser:
rs2102735014
Molecular consequence:
  • NM_001100.4:c.1060T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ACTA1-related myopathies
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001984806Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 28, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV001984806.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the gnomAD population database and thus is presumed to be rare. The c.1060T>C (p.Phe354Leu) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. This variant was found in trans with a variant in ACTA1 which was also classified as Likely Pathogenic. Based on the available evidence, the c.1060T>C (p.Phe354Leu) variant is classified as Likely Pathogenic.

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

Last Updated: Dec 24, 2023