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NM_000261.2(MYOC):c.1138G>C (p.Asp380His) AND Glaucoma 1, open angle, A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000008425.3

Allele description [Variation Report for NM_000261.2(MYOC):c.1138G>C (p.Asp380His)]

NM_000261.2(MYOC):c.1138G>C (p.Asp380His)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.1138G>C (p.Asp380His)
Other names:
NM_000261.2(MYOC):c.1138G>C
HGVS:
  • NC_000001.11:g.171636302C>G
  • NG_008859.1:g.21332G>C
  • NM_000261.2:c.1138G>CMANE SELECT
  • NP_000252.1:p.Asp380His
  • NC_000001.10:g.171605442C>G
  • Q99972:p.Asp380His
Protein change:
D380H; ASP380HIS
Links:
UniProtKB: Q99972#VAR_054297; OMIM: 601652.0017; dbSNP: rs121909194
NCBI 1000 Genomes Browser:
rs121909194
Molecular consequence:
  • NM_000261.2:c.1138G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glaucoma 1, open angle, A (GLC1A)
Synonyms:
Primary open angle glaucoma juvenile onset 1; Glaucoma hereditary, juvenile; Glaucoma, Dominant (Juvenile Onset)
Identifiers:
MONDO: MONDO:0007664; MedGen: C1842028; Orphanet: 98977; OMIM: 137750

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028633OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2007) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

Wirtz MK, Samples JR, Choi D, Gaudette ND.

Am J Ophthalmol. 2007 Jul;144(1):75-80. Epub 2007 May 11.

PubMed [citation]
PMID:
17499207
PMCID:
PMC1948101

Details of each submission

From OMIM, SCV000028633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 7 affected members of a US family segregating primary open angle glaucoma (137750), Wirtz et al. (2007) identified heterozygosity for an asp380-to-his (D380H) mutation in the MYOC gene. Another member of the family with this mutation had high intraocular pressure. The disease presented in this family with extremely high IOPs requiring trabeculectomies to control the pressure. The age at diagnosis ranged from 30 to 45 years. Wirtz et al. (2007) concluded that this family had an intermediate phenotype between juvenile- and adult-onset glaucoma. The asp380 residue appeared to be important in myocilin function because substitution at this position with 4 different amino acids (his and 3 previously described substitutions of ala, asn, and gly) all resulted in an intermediate presentation of POAG.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 24, 2022