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NM_001614.5(ACTG1):c.424C>G (p.Leu142Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 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:
RCV002474077.2

Allele description [Variation Report for NM_001614.5(ACTG1):c.424C>G (p.Leu142Val)]

NM_001614.5(ACTG1):c.424C>G (p.Leu142Val)

Gene:
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001614.5(ACTG1):c.424C>G (p.Leu142Val)
HGVS:
  • NC_000017.11:g.81511566G>C
  • NG_011433.1:g.6236C>G
  • NG_015964.2:g.1506G>C
  • NM_001199954.3:c.424C>G
  • NM_001614.5:c.424C>GMANE SELECT
  • NP_001186883.1:p.Leu142Val
  • NP_001605.1:p.Leu142Val
  • NC_000017.10:g.79478592G>C
  • NM_001614.3:c.424C>G
  • NR_037688.3:n.496C>G
Protein change:
L142V
Molecular consequence:
  • NM_001199954.3:c.424C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001614.5:c.424C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037688.3:n.496C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002770104GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Feb 7, 2024) 		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, SCV002770104.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 8, 2024