NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) AND Retinitis pigmentosa 54

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 14, 2010
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:: RCV000000124.4

Allele description [Variation Report for NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)]

NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)

Gene:

PCARE:photoreceptor cilium actin regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.2

Genomic location:

Preferred name:

NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)

HGVS:

NC_000002.12:g.29073706G>A
NG_021427.1:g.5556C>T
NM_001029883.3:c.556C>TMANE SELECT
NP_001025054.1:p.Gln186Ter
NC_000002.11:g.29296572G>A
NM_001029883.2:c.556C>T

Protein change:

Q186*; GLN186TER

Links:

OMIM: 613425.0004; dbSNP: rs267606691

NCBI 1000 Genomes Browser:

rs267606691

Molecular consequence:

NM_001029883.3:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Retinitis pigmentosa 54 (RP54)
Identifiers:: MONDO: MONDO:0013263; MedGen: C3150691; Orphanet: 791; OMIM: 613428

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000020267	OMIM	no assertion criteria provided	Pathogenic (May 14, 2010)	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

SCV000020267

OMIM

no assertion criteria provided

Pathogenic
(May 14, 2010)

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

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T.

Am J Hum Genet. 2010 May 14;86(5):783-8. doi: 10.1016/j.ajhg.2010.03.016. Epub 2010 Apr 15.

PubMed [citation]

PMID:: 20398884
PMCID:: PMC2869006

Details of each submission

From OMIM, SCV000020267.3

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

Description

In affected members of a consanguineous Muslim Arab Israeli family with retinitis pigmentosa (RP54; 613428), Collin et al. (2010) identified homozygosity for a 556C-T transition in the C2ORF71 gene, resulting in a gln186-to-ter (Q186X) substitution. The mutation, which segregated with disease in the family, was not found in 286 ethnically matched chromosomes.

#	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: Apr 7, 2025

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