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NM_000261.2(MYOC):c.34G>C (p.Gly12Arg) AND Glaucoma

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 28, 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:
RCV001100519.5

Allele description [Variation Report for NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)]

NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)
Other names:
NM_000261.2:c.34G>C
HGVS:
  • NC_000001.11:g.171652578C>G
  • NG_008859.1:g.5056G>C
  • NM_000261.2:c.34G>CMANE SELECT
  • NP_000252.1:p.Gly12Arg
  • NC_000001.10:g.171621718C>G
  • NM_000261.1:c.34G>C
Protein change:
G12R
Links:
dbSNP: rs199752860
NCBI 1000 Genomes Browser:
rs199752860
Molecular consequence:
  • NM_000261.2:c.34G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glaucoma
Identifiers:
MONDO: MONDO:0005041; MedGen: C0017601; Human Phenotype Ontology: HP:0000501

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001257044Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 28, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.

Jia LY, Tam PO, Chiang SW, Ding N, Chen LJ, Yam GH, Pang CP, Wang NL.

Mol Vis. 2009;15:89-98. Epub 2009 Jan 16.

PubMed [citation]
PMID:
19145250
PMCID:
PMC2622715

Presymptomatic genetic diagnosis for consulters from a large Chinese family with juvenile open angle glaucoma.

Chen Y, Jiang D, Wan B, Yu L, Sun X.

Mol Vis. 2006 Apr 17;12:360-6.

PubMed [citation]
PMID:
16636654
See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001257044.1

#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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Oct 20, 2024