NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly) AND Glaucoma 1, open angle, G

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 1, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000001647.4

Allele description [Variation Report for NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)]

NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)

Gene:

WDR36:WD repeat domain 36 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.1

Genomic location:

Preferred name:

NM_139281.3(WDR36):c.1805A>G (p.Asp602Gly)

HGVS:

NC_000005.10:g.111119021A>G
NG_008979.1:g.31850A>G
NM_139281.3:c.1805A>GMANE SELECT
NP_644810.1:p.Asp658Gly
NP_644810.2:p.Asp602Gly
NC_000005.9:g.110454719A>G
NM_139281.2:c.1973A>G
Q8NI36:p.Asp658Gly

Protein change:

D602G; ASP658GLY

Links:

UniProtKB: Q8NI36#VAR_025969; OMIM: 609669.0001; dbSNP: rs34595252

NCBI 1000 Genomes Browser:

rs34595252

Molecular consequence:

NM_139281.3:c.1805A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Glaucoma 1, open angle, G (GLC1G)
Identifiers:: MedGen: C1835933; OMIM: 609887

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021803	OMIM	no assertion criteria provided	Uncertain significance (Jan 1, 2008)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 15677485, 17353431, 18172102

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021803

OMIM

no assertion criteria provided

Uncertain significance
(Jan 1, 2008)

germline

literature only

PubMed (3)
[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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.

Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Héon E, Crick RP, Child A, Sarfarazi M.

Hum Mol Genet. 2005 Mar 15;14(6):725-33. Epub 2005 Jan 27.

PubMed [citation]

PMID:: 15677485

No association between variations in the WDR36 gene and primary open-angle glaucoma.

Fingert JH, Alward WL, Kwon YH, Shankar SP, Andorf JL, Mackey DA, Sheffield VC, Stone EM.

Arch Ophthalmol. 2007 Mar;125(3):434-6. No abstract available.

PubMed [citation]

PMID:: 17353431

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000021803.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

This variant, formerly titled GLAUCOMA 1, OPEN ANGLE, G, has been reclassified based on the findings of Fingert et al. (2007) and Pasutto et al. (2008).

In a 5-generation family with primary open angle glaucoma (POAG) mapping to 5q22.1 (GLC1G; 609887), Monemi et al. (2005) observed heterozygosity for a 1973A-G transition in exon 17 of the WDR36 gene in 7 affected family members and 9 asymptomatic gene carriers. The authors also observed the mutation in 13 of 670 additional POAG families. The mutation was predicted to result in substitution of glycine for the conserved aspartate-658 residue (D658G).

In a mutation screen of the WDR36 gene in 2 large cohorts of patients with POAG and ethnically matched control individuals, Fingert et al. (2007) detected the D658G substitution at the same frequency in patients and controls. In a mutation screen of a large German cohort with glaucoma of all types, Pasutto et al. (2008) also identified the D658G substitution as a polymorphism.

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

Last Updated: Oct 20, 2024

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