U.S. flag

An official website of the United States government

NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg) AND Glaucoma 1, open angle, A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2000
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:
RCV000008419.6

Allele description [Variation Report for NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg)]

NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.1297T>C (p.Cys433Arg)
Other names:
NM_000261.2(MYOC):c.1297T>C
HGVS:
  • NC_000001.11:g.171636143A>G
  • NG_008859.1:g.21491T>C
  • NM_000261.2:c.1297T>CMANE SELECT
  • NP_000252.1:p.Cys433Arg
  • NC_000001.10:g.171605283A>G
  • Q99972:p.Cys433Arg
Protein change:
C433R; CYS433ARG
Links:
UniProtKB: Q99972#VAR_008970; OMIM: 601652.0012; dbSNP: rs74315338
NCBI 1000 Genomes Browser:
rs74315338
Molecular consequence:
  • NM_000261.2:c.1297T>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028627OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2000) 		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

Novel mutation in the MYOC gene in primary open glaucoma patients.

Vasconcellos JP, Melo MB, Costa VP, Tsukumo DM, Bassères DS, Bordin S, Saad ST, Costa FF.

J Med Genet. 2000 Apr;37(4):301-3. No abstract available.

PubMed [citation]
PMID:
10819638
PMCID:
PMC1734562

Details of each submission

From OMIM, SCV000028627.4

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

Description

Vasconcellos et al. (2000) reported mutation analysis of 25 unrelated Brazilian patients with juvenile open angle glaucoma (137750). Seven of them had a T-to-C transition at nucleotide 1374 of the MYOC gene leading to a cysteine-to-arginine substitution at position 433 (cys433 to arg). This mutation was associated with a common haplotype, suggesting that it was inherited from a common ancestor. The mutation is located in the most conserved region of a highly conserved olfactomedin-like domain.

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

Last Updated: Jun 24, 2022