NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro) AND Actin accumulation myopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2017
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:: RCV000679903.2

Allele description [Variation Report for NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro)]

NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro)

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.539T>C (p.Leu180Pro)

HGVS:

NC_000001.11:g.229432347A>G
NG_006672.1:g.6750T>C
NM_001100.4:c.539T>CMANE SELECT
NP_001091.1:p.Leu180Pro
NP_001091.1:p.Leu180Pro
LRG_429t1:c.539T>C
LRG_429:g.6750T>C
LRG_429p1:p.Leu180Pro
NC_000001.10:g.229568094A>G
NM_001100.3:c.539T>C

Protein change:

L180P

Links:

dbSNP: rs1558081797

NCBI 1000 Genomes Browser:

rs1558081797

Molecular consequence:

NM_001100.4:c.539T>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

Recent activity

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dnaJ homolog subfamily B member 6 isoform X1 [Salvelinus alpinus]
dnaJ homolog subfamily B member 6 isoform X1 [Salvelinus alpinus]
gi|1343030941|ref|XP_023865410.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000807334	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 1, 2017)	de novo	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19562689, 25741868, 25326635

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000807334

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 1, 2017)

de novo

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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

See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV000807334.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (3)

Description

This mutation has been previously described in the literature, although without sufficient information to definitively classify it as disease-causing. It has been identified once in our laboratory as a de novo mutation in a 1-year-old male with congenital myopathy and hypotonia, dysmorphisms, failure to thrive, mild club foot; his monozygotic twin was similarly affected and died of pneumonia

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000508680.4)	not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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