U.S. flag

An official website of the United States government

NM_000283.4(PDE6B):c.1615-1G>C AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 19, 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:
RCV001993150.6

Allele description [Variation Report for NM_000283.4(PDE6B):c.1615-1G>C]

NM_000283.4(PDE6B):c.1615-1G>C

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.1615-1G>C
HGVS:
  • NC_000004.12:g.662133G>C
  • NG_009839.1:g.41560G>C
  • NG_009839.2:g.41562G>C
  • NM_000283.4:c.1615-1G>CMANE SELECT
  • NM_001145291.2:c.1615-1G>C
  • NM_001145292.2:c.778-1G>C
  • NM_001350154.3:c.778-1G>C
  • NM_001350155.3:c.460-1G>C
  • NM_001379246.1:c.778-1G>C
  • NM_001379247.1:c.778-1G>C
  • NC_000004.11:g.655922G>C
Links:
dbSNP: rs2109252915
NCBI 1000 Genomes Browser:
rs2109252915
Molecular consequence:
  • NM_000283.4:c.1615-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001145291.2:c.1615-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001145292.2:c.778-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001350154.3:c.778-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001350155.3:c.460-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379246.1:c.778-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379247.1:c.778-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002228007Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 19, 2022) 		germlineclinical testing

PubMed (6)
[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

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q.

Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18.

PubMed [citation]
PMID:
24938718

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933
See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002228007.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1451206). Disruption of this splice site has been observed in individuals with autosomal recessive retinitis pigmentosa (PMID: 24938718). This sequence change affects an acceptor splice site in intron 12 of the PDE6B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PDE6B are known to be pathogenic (PMID: 8394174, 8595886, 22334370).

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

Last Updated: Sep 29, 2024