NM_000283.4(PDE6B):c.774C>G (p.His258Gln) AND Retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 27, 2018
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:: RCV001073265.1

Allele description [Variation Report for NM_000283.4(PDE6B):c.774C>G (p.His258Gln)]

NM_000283.4(PDE6B):c.774C>G (p.His258Gln)

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.774C>G (p.His258Gln)

HGVS:

NC_000004.12:g.653914C>G
NG_009839.1:g.33341C>G
NM_000283.4:c.774C>GMANE SELECT
NM_001145291.2:c.774C>G
NM_001145292.2:c.-64C>G
NM_001350154.3:c.-64C>G
NM_001350155.3:c.-267C>G
NM_001379246.1:c.-64C>G
NM_001379247.1:c.-64C>G
NP_000274.2:p.His258Gln
NP_000274.3:p.His258Gln
NP_001138763.2:p.His258Gln
NC_000004.11:g.647703C>G
NM_000283.3:c.774C>G

Protein change:

H258Q

Links:

dbSNP: rs1735848896

NCBI 1000 Genomes Browser:

rs1735848896

Molecular consequence:

NM_001145292.2:c.-64C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350154.3:c.-64C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350155.3:c.-267C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001379246.1:c.-64C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001379247.1:c.-64C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000283.4:c.774C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001145291.2:c.774C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001238801	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Sep 27, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001238801

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Sep 27, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001238801.1

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

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

Last Updated: Apr 1, 2023

ClinVar

Relating variation to medicine