NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 29, 2019
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:: RCV000497587.2

Allele description [Variation Report for NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu)]

NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu)

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.1106C>T (p.Pro369Leu)

HGVS:

NC_000001.11:g.229431527G>A
NG_006672.1:g.7570C>T
NM_001100.4:c.1106C>TMANE SELECT
NP_001091.1:p.Pro369Leu
NP_001091.1:p.Pro369Leu
LRG_429t1:c.1106C>T
LRG_429:g.7570C>T
LRG_429p1:p.Pro369Leu
NC_000001.10:g.229567274G>A
NM_001100.3:c.1106C>T

Protein change:

P369L

Links:

dbSNP: rs1553255293

NCBI 1000 Genomes Browser:

rs1553255293

Molecular consequence:

NM_001100.4:c.1106C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000589626	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (May 29, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000589626

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(May 29, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000589626.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 26172852, 19562689)

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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