NM_000283.4(PDE6B):c.1615-11G>A AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 6, 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:: RCV002045890.6

Allele description [Variation Report for NM_000283.4(PDE6B):c.1615-11G>A]

NM_000283.4(PDE6B):c.1615-11G>A

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.1615-11G>A

HGVS:

NC_000004.12:g.662123G>A
NG_009839.1:g.41550G>A
NM_000283.4:c.1615-11G>AMANE SELECT
NM_001145291.2:c.1615-11G>A
NM_001145292.2:c.778-11G>A
NM_001350154.3:c.778-11G>A
NM_001350155.3:c.460-11G>A
NM_001379246.1:c.778-11G>A
NM_001379247.1:c.778-11G>A
NC_000004.11:g.655912G>A

Links:

dbSNP: rs934976363

NCBI 1000 Genomes Browser:

rs934976363

Molecular consequence:

NM_000283.4:c.1615-11G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001145291.2:c.1615-11G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001145292.2:c.778-11G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350154.3:c.778-11G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001350155.3:c.460-11G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001379246.1:c.778-11G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001379247.1:c.778-11G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002299844	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Sep 6, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002299844

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Sep 6, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002299844.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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: 1513342). This variant has been observed in individuals with retinitis pigmentosa (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 12 of the PDE6B gene. It does not directly change the encoded amino acid sequence of the PDE6B protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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