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NM_000261.2(MYOC):c.1348A>G (p.Asn450Asp) AND Glaucoma 1, open angle, E

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2022
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV002509864.1

Allele description [Variation Report for NM_000261.2(MYOC):c.1348A>G (p.Asn450Asp)]

NM_000261.2(MYOC):c.1348A>G (p.Asn450Asp)

Gene:
MYOC:myocilin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.3
Genomic location:
Preferred name:
NM_000261.2(MYOC):c.1348A>G (p.Asn450Asp)
Other names:
NM_000261.2:c.1348A>G
HGVS:
  • NC_000001.11:g.171636092T>C
  • NG_008859.1:g.21542A>G
  • NM_000261.2:c.1348A>GMANE SELECT
  • NP_000252.1:p.Asn450Asp
  • NC_000001.10:g.171605232T>C
Protein change:
N450D
Molecular consequence:
  • NM_000261.2:c.1348A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Glaucoma 1, open angle, E
Identifiers:
MedGen: C1842026

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002818494ClinGen Glaucoma Variant Curation Expert Panel
reviewed by expert panel

(ClinGen Glaucoma ACMG Specifications v1.1)		Uncertain significance
(Dec 14, 2022) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Glaucoma Variant Curation Expert Panel, SCV002818494.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The c.1348A>G variant in MYOC is a missense variant predicted to cause substitution of Asparagine by Aspartic Acid at amino acid 450 (p.Asn450Asp). This variant was not found in any population of gnomAD (v2.1.1), meeting the <=0.0001 threshold set for PM2_Supporting in a population of at least 10,000 alleles. The REVEL score = 0.605, which was neither above nor below the thresholds for PP3 (>= 0.7) or BP4 (<=0.15), predicting a damaging or benign impact on MYOC function. There was no functional evidence predicting a damaging or benign impact of this variant on MYOC function. This variant has not yet been identified in a proband diagnosed with juvenile or primary open angle glaucoma, only in a participant with preperimetric primary open angle glaucoma, thus PS4 was not applied. In summary, this variant met the criteria to receive a score of 1 and to be classified as a variant of uncertain significance (uncertain significance classification range -1 to 5) for primary open angle glaucoma based on the ACMG/AMP criteria met, as specified by the ClinGen Glaucoma VCEP (v1, 12 Oct 2021): PM2_Supporting

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

Last Updated: Jan 21, 2023