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NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys) AND Glaucoma 1, open angle, A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 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:
RCV000852370.2

Allele description [Variation Report for NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys)]

NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.1153G>A (p.Glu385Lys)
Other names:
NM_000261.2(MYOC):c.1153G>A; p.Glu385Lys
HGVS:
  • NC_000001.11:g.171636287C>T
  • NG_008859.1:g.21347G>A
  • NM_000261.2:c.1153G>AMANE SELECT
  • NP_000252.1:p.Glu385Lys
  • NC_000001.10:g.171605427C>T
  • NM_000261.1:c.1153G>A
  • p.E385K
Protein change:
E385K
Links:
dbSNP: rs1033533679
NCBI 1000 Genomes Browser:
rs1033533679
Molecular consequence:
  • NM_000261.2:c.1153G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function

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
SCV000897705Pediatric Genomics Discovery Program, Yale University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 29, 2017) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicinheritedyes41not providednot providednot providedresearch

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 Pediatric Genomics Discovery Program, Yale University, SCV000897705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic4not providednot providedresearch PubMed (1)

Description

The heterozygous p.E385K variant was identified in a multi-generation family affected by glaucoma: three affected siblings and their affected father had onset of glaucoma before age 30, and all 4 individuals were identified to have this variant. There were no unaffected siblings of these individuals, thus segregation data is limited. The paternal grandfather of the siblings did not have glaucoma and also did not have the p.E385K variant. Other additional family members were known to have glaucoma but were deceased or otherwise unavailable for testing. This missense variant is absent from gnomAD. p.E385 is highly conserved in evolution, and p.E385K has multiple lines of computational evidence supporting a deleterious effect and a CADD score greater than 20.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided4not provided1not provided

Last Updated: Jul 16, 2023