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NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser)

Variation ID: Help
4098
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser)

Allele ID:
19137
Variant type:
single nucleotide variant
Cytogenetic location:
5q32
Genomic location:
  • Chr5: 149981550 (on Assembly GRCh38)
  • Chr5: 149361113 (on Assembly GRCh37)
Protein change:
C653S
HGVS:
  • NG_007147.2:g.22668T>A
  • NM_000112.3:c.1957T>A
  • NP_000103.2:p.Cys653Ser
  • NC_000005.10:g.149981550T>A (GRCh38)
  • LRG_684t1:c.1957T>A
  • NC_000005.9:g.149361113T>A (GRCh37)
  • NG_007147.1:g.22668T>A
  • P50443:p.Cys653Ser
  • LRG_684p1:p.Cys653Ser
  • LRG_684:g.22668T>A
Links:
NCBI 1000 Genomes Browser:
rs104893924
Molecular consequence:
NM_000112.3:c.1957T>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • Exome Aggregation Consortium (ExAC) 0.00010
  • The Genome Aggregation Database (gnomAD) 0.00026
  • The Genome Aggregation Database (gnomAD), exomes 0.00012
  • Trans-Omics for Precision Medicine (TOPMed) 0.00010

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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 nameSubmission accession
Pathogenic
(Oct 14, 2014)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000228778.5
Pathogenic
(Oct 2, 2014)
criteria provided, single submitter
clinical testinggermline
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and ClinicsSCV000280826.1
    Likely pathogenic
    (Mar 11, 2016)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000487413.1
    Likely pathogenic
    (Mar 11, 2016)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000487414.1
    Likely pathogenic
    (Mar 11, 2016)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000487415.1
    Likely pathogenic
    (Mar 11, 2016)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000487416.1
    Likely pathogenic
    (Aug 13, 2016)
    no assertion criteria providedresearchgermlineDivision of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqSCV000536907.1
    Pathogenic
    (Oct 15, 2003)
    no assertion criteria providedliterature onlygermlineOMIMSCV000024484.2
    Pathogenic
    (Jul 18, 2013)
    no assertion criteria providedcurationnot providedGeneReviewsSCV000086700.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot providednot providedgermline, not provided, unknownnot providednot provided
    Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicsnot providednot providedgermlinenot providednot providednot providednot provided
    Counsylnot providednot providedunknownnot providednot providednot provided
    Division of Human Genetics,Children's Hospital of Philadelphianot providednot providedgermlinenot providednot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot providednot providedgermlinenot providednot providednot provided
    GeneReviewsnot providednot providednot providednot providednot providedConverted during submission to…Full description
    OMIMnot providednot providedgermlinenot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: May 19, 2019

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