NM_001034853.1(RPGR):c.2650G>T (p.Glu884Ter) AND Retinitis pigmentosa 15

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2000
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:: RCV000010586.3

Allele description

NM_001034853.1(RPGR):c.2650G>T (p.Glu884Ter)

Gene:

RPGR:retinitis pigmentosa GTPase regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_001034853.1(RPGR):c.2650G>T (p.Glu884Ter)

HGVS:

NC_000023.11:g.38286349C>A
NG_009553.1:g.46187G>T
NM_000328.2:c.1905+745G>T
NM_001034853.1:c.2650G>T
NP_001030025.1:p.Glu884Ter
NC_000023.10:g.38145602C>A

Protein change:

E299*; GLU299TER

Links:

OMIM: 312610.0012; dbSNP: rs137852549

NCBI 1000 Genomes Browser:

rs137852549

Molecular consequence:

NM_000328.2:c.1905+745G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001034853.1:c.2650G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Retinitis pigmentosa 15 (RP3)
Identifiers:: MedGen: C1848295; Orphanet: 791; OMIM: 300029

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030812	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030812

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2000)

germline

literature only

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

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

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Vervoort R, Lennon A, Bird AC, Tulloch B, Axton R, Miano MG, Meindl A, Meitinger T, Ciccodicola A, Wright AF.

Nat Genet. 2000 Aug;25(4):462-6.

PubMed [citation]

PMID:: 10932196

Details of each submission

From OMIM, SCV000030812.1

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

Description

In a family with retinitis pigmentosa-3 (300029), Vervoort et al. (2000) identified a G-to-T transversion in ORF15, an alternatively spliced 3-prime terminal exon of the RPGR gene. This mutation resulted in a glutamic acid-to-stop substitution at residue 299 of ORF15 (E299X).

#	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: Jul 21, 2018

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