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NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs) AND Retinitis pigmentosa 40

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1995
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:
RCV000013987.25

Allele description [Variation Report for NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs)]

NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs)

Gene:
PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs)
HGVS:
  • NC_000004.12:g.625795_625865dup
  • NG_009839.1:g.5222_5292dup
  • NM_000283.4:c.169_239dupMANE SELECT
  • NM_001145291.2:c.169_239dup
  • NP_000274.2:p.Leu83fs
  • NP_000274.3:p.Leu83fs
  • NP_001138763.2:p.Leu83fs
  • NC_000004.11:g.619583_619584insACGGCGCTGCTGGAGCTGGTGCAGGATATGCAGGAGAGCATCAACATGGAGCGCGTGGTCTTCAAGGTCCT
  • NC_000004.11:g.619584_619654dup
  • NM_000283.3:c.169_239dup
Note:
NCBI staff reviewed the sequence information reported in PubMed 7599633 Fig. 3 to determine the location of this allele on the current reference sequence.
Protein change:
L83fs
Links:
dbVar: nssv7487192; dbVar: nsv1197566; OMIM: 180072.0006; dbSNP: rs1553801591
NCBI 1000 Genomes Browser:
rs1553801591
Molecular consequence:
  • NM_000283.4:c.169_239dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145291.2:c.169_239dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinitis pigmentosa 40 (RP40)
Identifiers:
MONDO: MONDO:0013429; MedGen: C3151107; Orphanet: 791; OMIM: 613801

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034234OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1995) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

Bayés M, Giordano M, Balcells S, Grinberg D, Vilageliu L, Martínez I, Ayuso C, Benítez J, Ramos-Arroyo MA, Chivelet P, et al.

Hum Mutat. 1995;5(3):228-34.

PubMed [citation]
PMID:
7599633

Details of each submission

From OMIM, SCV000034234.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a study of 19 families with autosomal recessive retinitis pigmentosa in Spain, Bayes et al. (1995) found that involvement of the PDE6B gene was excluded in all but 1. In this family (RP40; 613801), a consanguineous pedigree, they found a homozygous 71-bp tandem duplication in exon 1 of the affected member, while each parent was heterozygous. The defect caused a frameshift that led to a premature stop codon. In general, the findings of Bayes et al. (1995) suggest that mutations in the PDE6B gene may be responsible for only about 5% of cases of autosomal recessive RP.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024