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NM_000261.2(MYOC):c.1435T>C (p.Tyr479His) AND Glaucoma 1, open angle, A

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 27, 2021
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:
RCV001527405.4

Allele description [Variation Report for NM_000261.2(MYOC):c.1435T>C (p.Tyr479His)]

NM_000261.2(MYOC):c.1435T>C (p.Tyr479His)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.1435T>C (p.Tyr479His)
HGVS:
  • NC_000001.11:g.171636005A>G
  • NG_008859.1:g.21629T>C
  • NM_000261.2:c.1435T>CMANE SELECT
  • NP_000252.1:p.Tyr479His
  • NC_000001.10:g.171605145A>G
Protein change:
Y479H
Links:
dbSNP: rs2102944475
NCBI 1000 Genomes Browser:
rs2102944475
Molecular consequence:
  • NM_000261.2:c.1435T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV001738398Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 27, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes21not providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology, SCV001738398.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The variant was observed in the affected mother and one of her affected sibling, however not observed in the other similarly affected sibling.

Description

The c.1435T>C variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is also not present in Indian Exome Database [Kausthubham et al. Hum Mutat, 2021] and in our in-house exome database. The variant was earlier identified in POAG patients [Lopez-Martinez et al., Mol Vis, 2007] and reported to Human Genome Mutation Database (HGMD ID: CM073214). In-silico pathogenicity prediction programs like SIFT, Polyphen3, MutationTaster2, CADD, Varsome, InterVar etc. predicted this variant to be likely disease causing. Present evidences are not enough to classify the variant as pathogenic. Considering the phenotype observed in the patient the variant has been classified as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot provideddiscovery2not provided1not provided

Last Updated: Dec 24, 2023