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NM_001100.4(ACTA1):c.583C>G (p.Leu195Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 2022
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:
RCV002221921.3

Allele description [Variation Report for NM_001100.4(ACTA1):c.583C>G (p.Leu195Val)]

NM_001100.4(ACTA1):c.583C>G (p.Leu195Val)

Gene:
ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Preferred name:
NM_001100.4(ACTA1):c.583C>G (p.Leu195Val)
HGVS:
  • NC_000001.11:g.229432303G>C
  • NG_006672.1:g.6794C>G
  • NM_001100.4:c.583C>GMANE SELECT
  • NP_001091.1:p.Leu195Val
  • LRG_429:g.6794C>G
  • NC_000001.10:g.229568050G>C
Protein change:
L195V
Links:
dbSNP: rs2102735872

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002499198Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
    criteria provided, single submitter

    (ACMG Guidelines, 2015)    		Uncertain significance
    (Jan 20, 2022)     		germlineclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

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

    Citations

    PubMed

    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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV002499198.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    PP2, PP3, PM2

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

    Last Updated: Dec 24, 2023