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NM_178510.1(ANKK1):c.2137G>A (p.Glu713Lys)

Variation ID: Help
2105
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_178510.1(ANKK1):c.2137G>A (p.Glu713Lys)

Allele ID:
17144
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.2
Genomic location:
  • Chr11: 113400106 (on Assembly GRCh38)
  • Chr11: 113270828 (on Assembly GRCh37)
Other names:
  • ANKK1, GLU713LYS (rs1800497)
Protein change:
E713K
HGVS:
  • NG_012976.1:g.17316G>A
  • NM_178510.1:c.2137G>A
  • NP_848605.1:p.Glu713Lys
  • NC_000011.10:g.113400106G>A (GRCh38)
  • NC_000011.9:g.113270828G>A (GRCh37)
  • Q8NFD2:p.Glu713Lys
Links:
NCBI 1000 Genomes Browser:
rs1800497
Molecular consequence:
NM_178510.1:c.2137G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.32568 (A)
  • 1000 Genomes Project 0.32568
  • Exome Aggregation Consortium (ExAC) 0.27594
  • The Genome Aggregation Database (gnomAD) 0.25859
  • The Genome Aggregation Database (gnomAD), exomes 0.26396

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
Benign
(Apr 16, 2013)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000700563.2
Benign
(Oct 17, 2008)
no assertion criteria providedliterature only
  • Dopamine receptor d2, reduced brain density of[MedGen]
germlineOMIMSCV000022344.4

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug response
(Sep 18, 2015)
reviewed by expert panel
curationCondition: bupropion response - Efficacy
  • Drug reported used for: Tobacco use disorder[MedGen]
germlinePharmGKBSCV000268220.3
drug response
(Aug 1, 2016)
reviewed by expert panel
curationCondition: antipsychotics response - Toxicity/ADR
  • Drug reported used for: Metabolic syndrome X[MedGen | OMIM]
  • Drug reported used for: Schizophrenia[MedGen | OMIM | Human Phenotype Ontology]
  • Drug reported used for: Hyperprolactinemia[MedGen | Orphanet | OMIM | Human Phenotype Ontology]
  • Drug reported used for: Metabolic Syndrome X;Schizophrenia
  • Drug reported used for: Hyperprolactinemia;tardive dyskinesia;Weight gain
  • Drug reported used for: Mental Disorders[MedGen]
  • Drug reported used for: Schizophrenia;tardive dyskinesia
  • Drug reported used for: Metabolic Syndrome
germlinePharmGKBSCV000268221.3
drug response
(Aug 1, 2016)
reviewed by expert panel
curationCondition: clozapine response - Toxicity/ADR
  • Drug reported used for: Metabolic syndrome X[MedGen | OMIM]
  • Drug reported used for: Hyperprolactinemia[MedGen | Orphanet | OMIM | Human Phenotype Ontology]
  • Drug reported used for: Autism spectrum disorder[MedGen | Orphanet | OMIM]
  • Drug reported used for: Metabolic Syndrome X;Schizophrenia
  • Drug reported used for: Hyperprolactinemia;tardive dyskinesia;Weight gain
  • Drug reported used for: Autism Spectrum Disorder;schizoaffective disorder;Schizophrenia
  • Drug reported used for: Metabolic Syndrome
germlinePharmGKBSCV000268222.3
drug response
(Aug 1, 2016)
reviewed by expert panel
curationCondition: olanzapine response - Toxicity/ADR
germlinePharmGKBSCV000268223.3
drug response
(Aug 1, 2016)
reviewed by expert panel
curationCondition: risperidone response - Toxicity/ADR
  • Drug reported used for: Metabolic syndrome X[MedGen | OMIM]
  • Drug reported used for: Hyperprolactinemia[MedGen | Orphanet | OMIM | Human Phenotype Ontology]
  • Drug reported used for: Autism spectrum disorder[MedGen | Orphanet | OMIM]
  • Drug reported used for: Metabolic Syndrome X;Schizophrenia
  • Drug reported used for: Hyperprolactinemia;tardive dyskinesia;Weight gain
  • Drug reported used for: Autism Spectrum Disorder;schizoaffective disorder;Schizophrenia
  • Drug reported used for: Metabolic Syndrome
germlinePharmGKBSCV000268224.3
drug response
(Mar 30, 2018)
reviewed by expert panel
curationCondition: ethanol response - Toxicity/ADR
  • Drug reported used for: Alcohol dependence[MedGen | OMIM]
germlinePharmGKBSCV000268225.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided46germlinenot providednot provided
EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided46germlinenot providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providednot provided
PharmGKBnot providednot providedgermlinenot providednot providedPharmGKB Level of Evidence 1B:…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 29, 2018

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