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NM_001100.4(ACTA1):c.586A>C (p.Thr196Pro) AND Actin accumulation myopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 9, 2009
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:
RCV003333911.1

Allele description [Variation Report for NM_001100.4(ACTA1):c.586A>C (p.Thr196Pro)]

NM_001100.4(ACTA1):c.586A>C (p.Thr196Pro)

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.586A>C (p.Thr196Pro)
HGVS:
  • NC_000001.11:g.229432300T>G
  • NG_006672.1:g.6797A>C
  • NG_093760.1:g.685T>G
  • NM_001100.4:c.586A>CMANE SELECT
  • NP_001091.1:p.Thr196Pro
  • NP_001091.1:p.Thr196Pro
  • LRG_429t1:c.586A>C
  • LRG_429:g.6797A>C
  • LRG_429p1:p.Thr196Pro
  • NC_000001.10:g.229568047T>G
  • NM_001100.3:c.586A>C
Protein change:
T196P
Molecular consequence:
  • NM_001100.4:c.586A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Actin accumulation myopathy (CMYO2A)
Synonyms:
Nemaline myopathy caused by mutation in the alpha-actin gene; CONGENITAL MYOPATHY 2A, TYPICAL, AUTOSOMAL DOMINANT; Myopathy, actin, congenital, with cores; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008070; MedGen: C3711389; OMIM: 161800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004041833Harry Perkins Institute Of Medical Research, University Of Western Australia
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 9, 2009) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ.

Hum Mutat. 2009 Sep;30(9):1267-77. doi: 10.1002/humu.21059.

PubMed [citation]
PMID:
19562689
PMCID:
PMC2784950

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 Harry Perkins Institute Of Medical Research, University Of Western Australia, SCV004041833.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2024