NM_031885.3(BBS2):c.1511C>T (p.Ala504Val)

Variation ID: Help
100595
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_031885.3(BBS2):c.1511C>T (p.Ala504Val)

Allele ID:
106472
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.2
Genomic location:
  • Chr16: 56499794 (on Assembly GRCh38)
  • Chr16: 56533706 (on Assembly GRCh37)
Protein change:
A504V
HGVS:
  • NG_009312.1:g.25490C>T
  • NM_031885.3:c.1511C>T
  • NP_114091.3:p.Ala504Val
  • NC_000016.10:g.56499794G>A (GRCh38)
  • NC_000016.9:g.56533706G>A (GRCh37)
Links:
dbSNP: 16957538
NCBI 1000 Genomes Browser:
rs16957538
Molecular consequence:
NM_031885.3:c.1511C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.02039 (A)
  • GMAF 0.02080 (A)
  • ExAC 0.00610 (A)

Variant frequency in dbGaP Help

NM_031885.3(BBS2):c.1511C>T (p.Ala504Val)

GRCh37 Chr16:56533706
Called variantsPotential variants
Sample count384 of 107591049 of 47843

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
Benign
(Jan 20, 2016)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000260909.2
    Likely benigncriteria provided, single submitter
    clinical testinggermline
      PreventionGenetics,PreventionGeneticsSCV000314810.1
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000398055.2
        not providedno assertion providedliterature onlynot provided
          NEI DNA Diagnostic Laboratory,National Institutes of HealthSCV000119237.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submittersnot providednot providedgermline, not providednot providednot provided
          Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
          Invitaenot providednot providedgermlinenot providednot providednot providednot provided
          NEI DNA Diagnostic Laboratory,National Institutes of Healthnot providednot providednot providednot providednot providednot providednot provided
          PreventionGenetics,PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: Mar 19, 2017