NM_000322.5(PRPH2):c.73_74del (p.Trp25fs) AND Retinitis punctata albescens, autosomal dominant

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 1993
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:: RCV002280866.1

Allele description [Variation Report for NM_000322.5(PRPH2):c.73_74del (p.Trp25fs)]

NM_000322.5(PRPH2):c.73_74del (p.Trp25fs)

Gene:

PRPH2:peripherin 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p21.1

Genomic location:

Preferred name:

NM_000322.5(PRPH2):c.73_74del (p.Trp25fs)

HGVS:

NC_000006.12:g.42722261_42722262del
NG_009176.2:g.5359_5360del
NM_000322.5:c.73_74delMANE SELECT
NP_000313.2:p.Trp25fs
NC_000006.11:g.42689999_42690000del
NM_000322.4:c.73_74del
NM_000322.4:c.73_74delTG

Protein change:

W25fs

Links:

OMIM: 179605.0005; dbSNP: rs61755765

NCBI 1000 Genomes Browser:

rs61755765

Molecular consequence:

NM_000322.5:c.73_74del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Retinitis punctata albescens, autosomal dominant
Identifiers:: MedGen: C4016358

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
SCV000034299	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1993)	germline	literature only	PubMed (1) [See all records that cite this PMID] Kajiwara, K., Sandberg, M. A., Berson, E. L., Dryja, T. P. A null mutation in the human RDS/peripherin gene in a family with autosomal dominant retinitis punctata albescens. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A6-only, 1992.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034299

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1993)

germline

literature only

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

Kajiwara, K., Sandberg, M. A., Berson, E. L., Dryja, T. P. A null mutation in the human RDS/peripherin gene in a family with autosomal dominant retinitis punctata albescens. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A6-only, 1992.

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

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

Kajiwara K, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1993 Mar;3(3):208-12.

PubMed [citation]

PMID:: 8485575

Details of each submission

From OMIM, SCV000034299.2

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

Description

In a 59-year-old man with advanced retinal degeneration involving the macula and with peripheral subretinal flecks (retinitis punctata albescens; see 136880), Kajiwara et al. (1992, 1993) identified a 2-bp deletion in codon 25 of the RDS gene, leading to a premature stop codon 54 bases downstream. The predicted protein product, if expressed, would contain only 42 amino acid residues rather than the normal 346. Of the patient's immediate relatives available for testing, only his 33-year-old daughter carried the mutation. She had no relevant visual symptoms but had funduscopic abnormalities, including attenuated vessels and subretinal flecks, and ERG findings indicating progressive retinal degeneration.

#	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: Sep 10, 2022

ClinVar

Relating variation to medicine