NM_015559.2(SETBP1):c.2608G>A (p.Gly870Ser)

Variation ID: Help
1035
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Sep 19, 2013
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_015559.2(SETBP1):c.2608G>A (p.Gly870Ser)

Allele ID:
16074
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.3
Genomic location:
  • Chr18: 44951948 (on Assembly GRCh38)
  • Chr18: 42531913 (on Assembly GRCh37)
Protein change:
G870S
HGVS:
  • NG_027527.2:g.276776G>A
  • NM_015559.2:c.2608G>A
  • NP_056374.2:p.Gly870Ser
  • NC_000018.10:g.44951948G>A (GRCh38)
  • NC_000018.9:g.42531913G>A (GRCh37)
  • NG_027527.1:g.276776G>A
  • Q9Y6X0:p.Gly870Ser
Links:
NCBI 1000 Genomes Browser:
rs267607040
Molecular consequence:
NM_015559.2:c.2608G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00002 (A)

Variant frequency in dbGaP Help

NM_015559.2(SETBP1):c.2608G>A (p.Gly870Ser)

GRCh37 Chr18:42531913
Called variantsPotential variants
Sample countno data0 of 40712

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 19, 2013)
criteria provided, single submitter
clinical testing
  • Schinzel-Giedion syndrome (Autosomal dominant inheritance)[MedGen | OMIM]
germline
    Genetic Services Laboratory, University of ChicagoSCV000194893.1
    Pathogenic
    (Apr 1, 2011)
    no assertion criteria providedliterature onlygermlineOMIMSCV000021240.1

    Somatic

    Clinical significance
    (Last evaluated)
    Review status
    (Assertion method)
    Collection methodCondition(s)
    (Mode of inheritance)
    OriginCitationsSubmitter - Study nameSubmission accession
    not provided
    (Mar 10, 2016)
    no assertion providedliterature onlysomaticDatabase of Curated Mutations (DoCM)
    Study description
    SCV000505749.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, somaticnot providednot provided
    Database of Curated Mutations (DoCM)not providednot providedsomaticnot providednot providednot provided
    Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 8, 2017