U.S. flag

An official website of the United States government

NM_001100.4(ACTA1):c.541del (p.Asp181fs) AND Congenital myopathy 2b, severe infantile, autosomal recessive

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003223407.2

Allele description [Variation Report for NM_001100.4(ACTA1):c.541del (p.Asp181fs)]

NM_001100.4(ACTA1):c.541del (p.Asp181fs)

Gene:
ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_001100.4(ACTA1):c.541del (p.Asp181fs)
Other names:
NM_001100.4(ACTA1):c.541del; p.Asp181fs
HGVS:
  • NC_000001.11:g.229432346del
  • NG_006672.1:g.6752del
  • NG_093760.1:g.731del
  • NM_001100.4:c.541delMANE SELECT
  • NP_001091.1:p.Asp181Thrfs
  • NP_001091.1:p.Asp181fs
  • NP_001091.1:p.Asp181fs
  • LRG_429t1:c.541del
  • LRG_429:g.6752del
  • LRG_429p1:p.Asp181fs
  • NC_000001.10:g.229568092del
  • NC_000001.10:g.229568093del
  • NM_001100.3:c.540delG
  • NM_001100.3:c.541del
  • NM_001100.3:c.541delG
Protein change:
D181fs
Links:
OMIM: 102610.0022; dbSNP: rs759242559
NCBI 1000 Genomes Browser:
rs759242559
Molecular consequence:
  • NM_001100.4:c.541del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Congenital myopathy 2b, severe infantile, autosomal recessive (CMYO2B)
Identifiers:
MONDO: MONDO:0859517; MedGen: C5830300; OMIM: 620265

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
SCV003841100OMIM
no assertion criteria provided
Pathogenic
(Jul 16, 2024) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Nemaline myopathy caused by absence of alpha-skeletal muscle actin.

Nowak KJ, Sewry CA, Navarro C, Squier W, Reina C, Ricoy JR, Jayawant SS, Childs AM, Dobbie JA, Appleton RE, Mountford RC, Walker KR, Clement S, Barois A, Muntoni F, Romero NB, Laing NG.

Ann Neurol. 2007 Feb;61(2):175-84.

PubMed [citation]
PMID:
17187373

Details of each submission

From OMIM, SCV003841100.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 5 patients from 4 unrelated consanguineous families with autosomal recessive congenital myopathy-2B (CMYO2B; 620265), Nowak et al. (2007) identified a homozygous 1-bp deletion (c.541delG) in the ACTA1 gene, predicted to result in a frameshift and premature termination (Asp181fsTer10). In cases where DNA was available, the unaffected parents were heterozygous for the mutation. The families were of Pakistani and Indian British origin, and haplotype analysis was consistent with a founder effect. Skeletal muscle biopsy from some of the patients showed absence of the ACTA1 protein with increased expression of cardiac alpha-actin (ACTC1; 102540), likely reflecting a compensatory mechanism.

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

Last Updated: Oct 13, 2024