NM_000261.2(MYOC):c.814C>G (p.Arg272Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 2023
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:: RCV003560891.2

Allele description [Variation Report for NM_000261.2(MYOC):c.814C>G (p.Arg272Gly)]

NM_000261.2(MYOC):c.814C>G (p.Arg272Gly)

Gene:

MYOC:myocilin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q24.3

Genomic location:

Preferred name:

NM_000261.2(MYOC):c.814C>G (p.Arg272Gly)

Other names:

NM_000261.2:c.814C>G

HGVS:

NC_000001.11:g.171636626G>C
NG_008859.1:g.21008C>G
NM_000261.2:c.814C>GMANE SELECT
NP_000252.1:p.Arg272Gly
NC_000001.10:g.171605766G>C
NC_000001.10:g.171605766G>C

Protein change:

R272G

Links:

dbSNP: rs202176570

NCBI 1000 Genomes Browser:

rs202176570

Molecular consequence:

NM_000261.2:c.814C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Rattus norvegicus 3-hydroxybutyrate dehydrogenase (heart, mitochondrial) (Bdh), ...
Rattus norvegicus 3-hydroxybutyrate dehydrogenase (heart, mitochondrial) (Bdh), nuclear gene encoding mitochondrial protein, mRNA
gi|16758901|ref|NM_053995.1|

Nucleotide
LOC105169862 [Sesamum indicum]
LOC105169862 [Sesamum indicum]
Gene ID:105169862

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004293825	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 17, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11004290, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004293825

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 17, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, Clarke MS, Schwartz AL, Downs CA, Vollrath D, Richards JE.

Am J Ophthalmol. 2000 Aug;130(2):165-77.

PubMed [citation]

PMID:: 11004290

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004293825.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 272 of the MYOC protein (p.Arg272Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with primary open-angle glaucoma (PMID: 11004290). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1686788). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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