NM_001100.4(ACTA1):c.329C>T (p.Ala110Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 12, 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:
RCV000520316.1

Allele description [Variation Report for NM_001100.4(ACTA1):c.329C>T (p.Ala110Val)]

NM_001100.4(ACTA1):c.329C>T (p.Ala110Val)

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.329C>T (p.Ala110Val)
HGVS:
  • NC_000001.11:g.229432681G>A
  • NG_006672.1:g.6416C>T
  • NM_001100.4:c.329C>TMANE SELECT
  • NP_001091.1:p.Ala110Val
  • NP_001091.1:p.Ala110Val
  • LRG_429t1:c.329C>T
  • LRG_429:g.6416C>T
  • LRG_429p1:p.Ala110Val
  • NC_000001.10:g.229568428G>A
  • NM_001100.3:c.329C>T
Protein change:
A110V
Links:
dbSNP: rs970679543
NCBI 1000 Genomes Browser:
rs970679543
Molecular consequence:
  • NM_001100.4:c.329C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000618123GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 12, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000618123.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The A110V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A110V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.

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

Last Updated: Sep 29, 2024