NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) AND Retinitis pigmentosa 36

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 1, 2016
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:: RCV000030701.5

Allele description [Variation Report for NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)]

NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)

Genes:

CYGB:cytoglobin [Gene - OMIM - HGNC]
PRCD:photoreceptor disc component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)

HGVS:

NC_000017.11:g.76540205C>T
NG_016702.1:g.17620C>T
NM_001077620.3:c.64C>TMANE SELECT
NP_001071088.1:p.Arg22Ter
NC_000017.10:g.74536287C>T
NM_001077620.2:c.64C>T

Protein change:

R22*; ARG22TER

Links:

OMIM: 610598.0002; dbSNP: rs387907268

NCBI 1000 Genomes Browser:

rs387907268

Molecular consequence:

NM_001077620.3:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Retinitis pigmentosa 36 (RP36)
Synonyms:: RP 36
Identifiers:: MONDO: MONDO:0012523; MedGen: C1864621; Orphanet: 791; OMIM: 610599

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053362	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2010)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000804684	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	no assertion criteria provided	Pathogenic (Sep 1, 2016)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053362

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2010)

germline

literature only

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

SCV000804684

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

no assertion criteria provided

Pathogenic
(Sep 1, 2016)

unknown

clinical testing

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
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.

Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T.

J Med Genet. 2010 Aug;47(8):533-7. doi: 10.1136/jmg.2009.073619. Epub 2010 May 27.

PubMed [citation]

PMID:: 20507925

Details of each submission

From OMIM, SCV000053362.2

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

Description

In 18 patients with retinitis pigmentosa (RP36; 610599) from 9 consanguineous families from the same Muslim Arab village, Nevet et al. (2010) identified homozygosity for a 64C-T transition in exon 1 of the PRCD gene, resulting in an arg22-to-ter (R22X) substitution. This founder mutation was present at a carrier frequency of 10% in the village, and was not detected in 130 unrelated Israeli Muslim Arab controls.

#	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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804684.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine