NM_000261.2(MYOC):c.864C>T (p.Ile288=) AND Glaucoma 1, open angle, A

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001096857.6

Allele description [Variation Report for NM_000261.2(MYOC):c.864C>T (p.Ile288=)]

NM_000261.2(MYOC):c.864C>T (p.Ile288=)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.864C>T (p.Ile288=)
Other names:
NM_000261.2(MYOC):c.864C>T; p.Ile288=
HGVS:
  • NC_000001.11:g.171636576G>A
  • NG_008859.1:g.21058C>T
  • NM_000261.2:c.864C>TMANE SELECT
  • NP_000252.1:p.Ile288=
  • NC_000001.10:g.171605716G>A
  • NM_000261.1:c.864C>T
Links:
dbSNP: rs181923440
NCBI 1000 Genomes Browser:
rs181923440
Molecular consequence:
  • NM_000261.2:c.864C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001253102Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.

Kim HJ, Suh W, Park SC, Kim CY, Park KH, Kook MS, Kim YY, Kim CS, Park CK, Ki CS, Kee C.

Mol Vis. 2011;17:2093-101. Epub 2011 Aug 9.

PubMed [citation]
PMID:
21850185
PMCID:
PMC3156779

SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.

Fan BJ, Wang DY, Fan DS, Tam PO, Lam DS, Tham CC, Lam CY, Lau TC, Pang CP.

Mol Vis. 2005 Aug 29;11:625-31.

PubMed [citation]
PMID:
16148883
See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001253102.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Nov 10, 2024