NM_001100.4(ACTA1):c.317T>C (p.Leu106Pro) AND Neuromuscular disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 11, 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:: RCV003333930.1

Allele description [Variation Report for NM_001100.4(ACTA1):c.317T>C (p.Leu106Pro)]

NM_001100.4(ACTA1):c.317T>C (p.Leu106Pro)

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.317T>C (p.Leu106Pro)

HGVS:

NC_000001.11:g.229432693A>G
NG_006672.1:g.6404T>C
NM_001100.4:c.317T>CMANE SELECT
NP_001091.1:p.Leu106Pro
NP_001091.1:p.Leu106Pro
LRG_429t1:c.317T>C
LRG_429:g.6404T>C
LRG_429p1:p.Leu106Pro
NC_000001.10:g.229568440A>G
NM_001100.3:c.317T>C

Protein change:

L106P

Molecular consequence:

NM_001100.4:c.317T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neuromuscular disease
Synonyms:: Neuromuscular Diseases; Neuromuscular disorder; Neuromyopathy
Identifiers:: MONDO: MONDO:0019056; MeSH: D009468; MedGen: C0027868

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004041854	Harry Perkins Institute Of Medical Research, University Of Western Australia	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 11, 2020)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 32403337, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004041854

Harry Perkins Institute Of Medical Research, University Of Western Australia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 11, 2020)

germline

literature only

PubMed (2)
[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	germline	yes	1	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P.

Genes (Basel). 2020 May 11;11(5). doi: 10.3390/genes11050539.

PubMed [citation]

PMID:: 32403337
PMCID:: PMC7288461

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, SCV004041854.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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