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NM_000283.4(PDE6B):c.1258-2A>G AND Retinitis pigmentosa 40

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 10, 2021
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:
RCV001293399.1

Allele description [Variation Report for NM_000283.4(PDE6B):c.1258-2A>G]

NM_000283.4(PDE6B):c.1258-2A>G

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.1258-2A>G
HGVS:
  • NC_000004.12:g.657349A>G
  • NG_009839.1:g.36776A>G
  • NG_009839.2:g.36778A>G
  • NM_000283.4:c.1258-2A>GMANE SELECT
  • NM_001145291.2:c.1258-2A>G
  • NM_001145292.2:c.421-2A>G
  • NM_001350154.3:c.421-2A>G
  • NM_001350155.3:c.103-2A>G
  • NM_001379246.1:c.421-2A>G
  • NM_001379247.1:c.421-2A>G
  • NC_000004.11:g.651138A>G
  • NM_000283.3:c.1258-2A>G
Links:
dbSNP: rs1736402440
NCBI 1000 Genomes Browser:
rs1736402440
Molecular consequence:
  • NM_000283.4:c.1258-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001145291.2:c.1258-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001145292.2:c.421-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001350154.3:c.421-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001350155.3:c.103-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379246.1:c.421-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379247.1:c.421-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001481992Molecular Genetics Laboratory, Institute for Ophthalmic Research
no assertion criteria provided
Likely pathogenic
(Feb 10, 2021) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.

Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S.

Int J Mol Sci. 2021 Feb 27;22(5). doi:pii: 2374. 10.3390/ijms22052374.

PubMed [citation]
PMID:
33673512
PMCID:
PMC7956818

Details of each submission

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV001481992.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024