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NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 8, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001894137.3

Allele description [Variation Report for NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)]

NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)

Gene:
PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)
HGVS:
  • NC_000004.12:g.625888C>T
  • NG_009839.1:g.5315C>T
  • NM_000283.4:c.262C>TMANE SELECT
  • NM_001145291.2:c.262C>T
  • NP_000274.3:p.Gln88Ter
  • NP_001138763.2:p.Gln88Ter
  • NC_000004.11:g.619677C>T
Protein change:
Q88*
Links:
dbSNP: rs970768801
NCBI 1000 Genomes Browser:
rs970768801
Molecular consequence:
  • NM_000283.4:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001145291.2:c.262C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002127285Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 8, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

McLaughlin ME, Sandberg MA, Berson EL, Dryja TP.

Nat Genet. 1993 Jun;4(2):130-4.

PubMed [citation]
PMID:
8394174

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.

Danciger M, Blaney J, Gao YQ, Zhao DY, Heckenlively JR, Jacobson SG, Farber DB.

Genomics. 1995 Nov 1;30(1):1-7.

PubMed [citation]
PMID:
8595886
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV002127285.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Gln88*) in the PDE6B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDE6B are known to be pathogenic (PMID: 8394174, 8595886, 22334370). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1358080). This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 33691693). This variant is present in population databases (no rsID available, gnomAD 0.02%).

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

Last Updated: Feb 28, 2024