NM_002098.5(GUCA1B):c.469G>A (p.Gly157Arg) AND Retinitis Pigmentosa, Dominant

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000343566.1

Allele description

NM_002098.5(GUCA1B):c.469G>A (p.Gly157Arg)

Gene:

GUCA1B:guanylate cyclase activator 1B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_002098.5(GUCA1B):c.469G>A (p.Gly157Arg)

HGVS:

NC_000006.12:g.42185686C>T
NG_016216.1:g.14271G>A
NM_002098.5:c.469G>A
NP_002089.4:p.Gly157Arg
NC_000006.11:g.42153424C>T
Q9UMX6:p.Gly157Arg

Protein change:

G157R; GLY157ARG

Links:

UniProtKB: Q9UMX6#VAR_065355; OMIM: 602275.0001; dbSNP: rs121909124

NCBI 1000 Genomes Browser:

rs121909124

Molecular consequence:

NM_002098.5:c.469G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis Pigmentosa, Dominant
Identifiers:: MedGen: CN239354

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000463007	Illumina Clinical Services Laboratory,Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15452722, 26161267 ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000463007

Illumina Clinical Services Laboratory,Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

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

Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.

Sato M, Nakazawa M, Usui T, Tanimoto N, Abe H, Ohguro H.

Graefes Arch Clin Exp Ophthalmol. 2005 Mar;243(3):235-42. Epub 2004 Sep 28.

PubMed [citation]

PMID:: 15452722

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

Arai Y, Maeda A, Hirami Y, Ishigami C, Kosugi S, Mandai M, Kurimoto Y, Takahashi M.

J Ophthalmol. 2015;2015:819760. doi: 10.1155/2015/819760. Epub 2015 Jun 16.

PubMed [citation]

PMID:: 26161267
PMCID:: PMC4487330

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000463007.2

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

Description

The c.469G>A (p.Gly157Arg) variant was first identified by Sato et al. (2005) in three out of 63 unrelated Japanese patients with an autosomal dominant form of retinitis pigmentosa (adRP). The p.Gly157Arg variant was found to segregate with disease in the families of two of the probands. Arai et al. (2015) subsequently investigated 349 Japanese patients with inherited retinal dystrophies and identified the p.Gly157Arg variant in four unrelated patients with adRP. The p.Gly157Arg variant was absent from 100 controls but is reported at a frequency of 0.0015 in the East Asian population of the Exome Aggregation Consortium database. Based on the limited evidence, the p.Gly157Arg variant is classified as a variant of unknown significance but suspicious for pathogenicity for the autosomal dominant form of retinitis pigmentosa.

#	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: Mar 31, 2019

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