NM_021252.4(RAB18):c.592G>A (p.Ala198Thr)

NM_021252.4(RAB18):c.592G>A (p.Ala198Thr)

Variant type:
single nucleotide variant
Cytogenetic location:
10p12.1
Genomic location:
  • Chr10:27538022 (on Assembly GRCh38)
  • Chr10:27826951 (on Assembly GRCh37)
Protein change:
A198T
HGVS:
  • NG_032035.1:g.38849G>A
  • NM_021252.4:c.592G>A
  • NC_000010.11:g.27538022G>A (GRCh38)
  • NP_067075.1:p.Ala198Thr
  • NC_000010.10:g.27826951G>A (GRCh37)
  • NM_021252.3:c.592G>A
Links:
dbSNP: 11015859
NCBI 1000 Genomes Browser:
rs11015859
Molecular consequence:
  • NM_001256411.1:c.525G>A: synonymous variant SO:0001819
  • NM_021252.4:c.592G>A: missense variant SO:0001583
  • NR_046172.1:n.726G>A: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.03275 (A)
  • GMAF 0.03020 (A)

Clinical significance

NM_021252.4(RAB18):c.592G>A (p.Ala198Thr)

Clinical significance:
Benign/Likely benign
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Number of submission(s):
2
Condition(s)
    See supporting ClinVar records

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    Assertion and evidence details

    Germline

    Clinical significance
    (Last evaluated)
    Review status
    (Assertion method)
    Collection methodCondition(s)
    (Mode of inheritance)
    OriginCitationsSubmitter - Study name
    (Last submitted)
    Submission accession
    Benign
    (Jun 2, 2014)
    criteria provided, single submitter
    (GeneDx Variant Classification (06012015))
    clinical testinggermline

    Citation link

    GeneDx

    (Jun 10, 2014)

    SCV000171253
    Likely benignno assertion criteria providedclinical testing
    • not specified (Autosomal recessive inheritance)[MedGen]
    germlineGenetic Services Laboratory, University of Chicago

    (Jun 27, 2014)

    SCV000152418
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermlinenot providednot provided
    GeneDxnot providednot providedgermlinenot providednot providednot provided
    Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
    GeneDxgermlinenot providednot provided (unknown)not providednot providedThe variant is found in MICROCEPHALY panel(s).
    Genetic Services Laboratory, University of Chicagogermlinenot providednot specified (unknown)not providednot providednot providedLikely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated diseaseā€¦Full description

    Last Updated: Jul 26, 2015