NM_016945.2(TAS2R16):c.516T>G (p.Asn172Lys)

Variation ID: Help
5333
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic, risk factor
Last evaluated:
Feb 1, 2007
Number of submission(s):
2
Condition(s):
  • Beta-glycopyranoside tasting [MedGen]
  • Alcohol dependence, susceptibility to
See supporting ClinVar records

Allele(s) Help

NM_016945.2(TAS2R16):c.516T>G (p.Asn172Lys)

Allele ID:
20372
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.3
Genomic location:
  • Chr7: 122995119 (on Assembly GRCh38)
  • Chr7: 122635173 (on Assembly GRCh37)
Protein change:
K172N, N172K
HGVS:
  • NG_011980.1:g.5582T>G
  • NM_016945.2:c.516T>G
  • NP_058641.1:p.Asn172Lys
  • NC_000007.14:g.122995119A>C (GRCh38)
  • NC_000007.13:g.122635173A>C (GRCh37)
  • Q9NYV7:p.Asn172Lys
Links:
NCBI 1000 Genomes Browser:
rs846664
Molecular consequence:
NM_016945.2:c.516T>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.09357 (C)
  • GMAF 0.08830 (C)
  • ExAC 0.02599 (C)

Variant frequency in dbGaP Help

NM_016945.2(TAS2R16):c.516T>G (p.Asn172Lys)

GRCh37 Chr7:122635173
Called variantsPotential variants
Sample count486 of 89383072 of 40958

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
(Feb 1, 2007)
no assertion criteria providedliterature only
  • Beta-glycopyranoside tasting[MedGen]
germlineOMIMSCV000025841.1
risk factor
(Feb 1, 2007)
no assertion criteria providedliterature only
  • Alcohol dependence, susceptibility to
germlineOMIMSCV000025842.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 7, 2017