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NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) AND Congenital myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2024
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:
RCV004586937.1

Allele description [Variation Report for NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)]

NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)

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.283G>A (p.Glu95Lys)
HGVS:
  • NC_000001.11:g.229432727C>T
  • NG_006672.1:g.6370G>A
  • NM_001100.4:c.283G>AMANE SELECT
  • NP_001091.1:p.Glu95Lys
  • NP_001091.1:p.Glu95Lys
  • LRG_429t1:c.283G>A
  • LRG_429:g.6370G>A
  • LRG_429p1:p.Glu95Lys
  • NC_000001.10:g.229568474C>T
  • NM_001100.3:c.283G>A
Protein change:
E95K
Links:
dbSNP: rs1571893814
NCBI 1000 Genomes Browser:
rs1571893814
Molecular consequence:
  • NM_001100.4:c.283G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital myopathy
Identifiers:
MONDO: MONDO:0019952; MedGen: C0270960; OMIM: PS117000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005038594Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 1, 2024) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.

Labasse C, Brochier G, Taratuto AL, Cadot B, Rendu J, Monges S, Biancalana V, Quijano-Roy S, Bui MT, Chanut A, Madelaine A, Lacène E, Beuvin M, Amthor H, Servais L, de Feraudy Y, Erro M, Saccoliti M, Neto OA, Fauré J, Lannes B, Laugel V, et al.

Acta Neuropathol Commun. 2022 Jul 9;10(1):101. doi: 10.1186/s40478-022-01400-0.

PubMed [citation]
PMID:
35810298
PMCID:
PMC9271256

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 Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire, SCV005038594.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)

Description

PS2+PM1+PM2+PP2+PP3+PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024