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NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) AND Autosomal recessive retinitis pigmentosa

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 26, 2012
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:
RCV001257887.1

Allele description [Variation Report for NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)]

NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)

Genes:
PDE6B-AS1:PDE6B antisense RNA 1 [Gene - HGNC]
PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)
HGVS:
  • NC_000004.12:g.653950C>A
  • NG_009839.1:g.33377C>A
  • NM_000283.4:c.810C>AMANE SELECT
  • NM_001145291.2:c.810C>A
  • NM_001145292.2:c.-28C>A
  • NM_001350154.3:c.-28C>A
  • NM_001350155.3:c.-231C>A
  • NM_001379246.1:c.-28C>A
  • NM_001379247.1:c.-28C>A
  • NP_000274.2:p.Cys270Ter
  • NP_000274.3:p.Cys270Ter
  • NP_001138763.2:p.Cys270Ter
  • NC_000004.11:g.647739C>A
  • NM_000283.3:c.810C>A
  • NM_001145291.1:c.810C>A
  • p.(Cys270*)
Protein change:
C270*
Links:
dbSNP: rs145605739
NCBI 1000 Genomes Browser:
rs145605739
Molecular consequence:
  • NM_001145292.2:c.-28C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350154.3:c.-28C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350155.3:c.-231C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001379246.1:c.-28C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001379247.1:c.-28C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000283.4:c.810C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001145291.2:c.810C>A - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:
Autosomal recessive retinitis pigmentosa
Identifiers:
MedGen: C0339526

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001434638Faculty of Health Sciences, Beirut Arab University
no assertion criteria provided
Pathogenic
(Oct 26, 2012) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS.

Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.

PubMed [citation]
PMID:
23105016
PMCID:
PMC3561865

Details of each submission

From Faculty of Health Sciences, Beirut Arab University, SCV001434638.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 28, 2024