NM_000261.1(MYOC):c.144G>T (p.Gln48His)

Variation ID: Help
7958
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 14, 2016
Number of submission(s):
3
Condition(s):
  • Primary open angle glaucoma juvenile onset 1 [MedGen - OMIM]
  • Glaucoma 3, primary congenital, a, digenic [MedGen]
  • MYOC-Related Disorders [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_000261.1(MYOC):c.144G>T (p.Gln48His)

Allele ID:
22997
Variant type:
single nucleotide variant
Cytogenetic location:
1q24
Genomic location:
  • Chr1: 171652468 (on Assembly GRCh38)
  • Chr1: 171621608 (on Assembly GRCh37)
Protein change:
Q48H
HGVS:
  • NG_008859.1:g.5166G>T
  • NM_000261.1:c.144G>T
  • NP_000252.1:p.Gln48His
  • NC_000001.11:g.171652468C>A (GRCh38)
  • NC_000001.10:g.171621608C>A (GRCh37)
  • Q99972:p.Gln48His
Links:
NCBI 1000 Genomes Browser:
rs74315339
Molecular consequence:
NM_000261.1:c.144G>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GMAF 0.00260 (A)
  • ExAC 0.00132 (A)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • MYOC-Related Disorders[MedGen]
germlineIllumina Clinical Services Laboratory,IlluminaSCV000351312.2
Pathogenic
(Apr 1, 2005)
no assertion criteria providedliterature only
  • Primary open angle glaucoma juvenile onset 1[MedGen | OMIM]
germlineOMIMSCV000028629.2
Pathogenic
(Apr 1, 2005)
no assertion criteria providedliterature only
  • Glaucoma 3, primary congenital, a, digenic[MedGen]
germlineOMIMSCV000028630.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermlinenot providednot provided
Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedAcross a selection of the avaiā€¦Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017