NM_002036.3(ACKR1):c.-67T>C

Variation ID: Help
18395
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic, association, protective
Last evaluated:
Aug 10, 2015
Number of submission(s):
3
Condition(s):
  • White blood cell count quantitative trait locus 1 [MedGen - OMIM]
  • DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
  • Plasmodium vivax, resistance to [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_002036.3(ACKR1):c.-67T>C

Allele ID:
33434
Variant type:
single nucleotide variant
Cytogenetic location:
1q23
Genomic location:
  • Chr1: 159204893 (on Assembly GRCh38)
  • Chr1: 159174683 (on Assembly GRCh37)
Other names:
  • -33T-C
  • ACKR1, -67T-C (rs2814778)
HGVS:
  • NG_011626.2:g.5174T>C
  • NM_001122951.2:c.-541T>C
  • NM_002036.3:c.-67T>C
  • NC_000001.11:g.159204893T>C (GRCh38)
  • NC_000001.10:g.159174683T>C (GRCh37)
  • NG_011626.1:g.5174T>C
Links:
NCBI 1000 Genomes Browser:
rs2814778
Molecular consequence:
  • NM_001122951.2:c.-541T>C: 2KB upstream variant SO:0001636
  • NM_002036.3:c.-67T>C: 5 prime UTR variant SO:0001623
Functional consequence:
effect on promoter activity [PubMedVariation Ontology: 0153]
Allele frequency:
  • GO-ESP 0.24945 (C)
  • GMAF 0.26640 (C)

1 Affected gene

Variant frequency in dbGaP Help

NM_002036.3(ACKR1):c.-67T>C

GRCh37 Chr1:159174683
Called variantsPotential variants
Sample count397 of 14496808 of 40314

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
(Jan 1, 2010)
no assertion criteria providedliterature only
  • DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE
germlineOMIMSCV000020149.2
protective
(Aug 10, 2015)
no assertion criteria providedliterature only
  • Plasmodium vivax, resistance to[MedGen]
germlineOMIMSCV000020150.2
association
(Jan 1, 2010)
no assertion criteria providedliterature only
  • White blood cell count quantitative trait locus 1[MedGen | OMIM]
germlineOMIMSCV000020151.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jan 30, 2017