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NM_004667.5(HERC2):c.13272+874T>C

Variation ID: Help
4745
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
association
Last evaluated:
Feb 13, 2018
Number of submission(s):
1
Condition(s):
Skin/hair/eye pigmentation, variation in, 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_004667.5(HERC2):c.13272+874T>C

Allele ID:
19784
Variant type:
single nucleotide variant
Cytogenetic location:
15q13.1
Genomic location:
  • Chr15: 28120472 (on Assembly GRCh38)
  • Chr15: 28365618 (on Assembly GRCh37)
Other names:
  • IVS86, C/T
HGVS:
  • NG_016355.1:g.206678T>C
  • NM_004667.5:c.13272+874T>C
  • NC_000015.10:g.28120472A>G (GRCh38)
  • NC_000015.9:g.28365618A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs12913832
Molecular consequence:
NM_004667.5:c.13272+874T>C: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.17732 (G)
  • 1000 Genomes Project 0.17732
  • The Genome Aggregation Database (gnomAD) 0.55807
  • Trans-Omics for Precision Medicine (TOPMed) 0.45329

1 Affected gene

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
association
(Feb 13, 2018)
no assertion criteria providedliterature only
  • Skin/hair/eye pigmentation, variation in, 1[MedGen | OMIM]
germlineOMIMSCV000025187.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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