NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs) AND Bradyopsia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 7, 2020
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:: RCV001283837.1

Allele description [Variation Report for NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs)]

NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs)

Gene:

RGS9BP:regulator of G protein signaling 9 binding protein [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

19q13.11

Genomic location:

Preferred name:

NM_207391.3(RGS9BP):c.323_342delinsACCGGCG (p.Pro108fs)

HGVS:

NC_000019.10:g.32676586_32676605delinsACCGGCG
NG_016751.1:g.6180_6199delinsACCGGCG
NM_207391.3:c.323_342delinsACCGGCGMANE SELECT
NP_997274.2:p.Pro108fs
NC_000019.9:g.33167492_33167511delinsACCGGCG
NM_207391.2:c.323_342delinsACCGGCG

Protein change:

P108fs

Links:

dbSNP: rs1968005848

NCBI 1000 Genomes Browser:

rs1968005848

Molecular consequence:

NM_207391.3:c.323_342delinsACCGGCG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Bradyopsia
Synonyms:: Prolonged electroretinal response suppression
Identifiers:: MONDO: MONDO:0012033; MedGen: C1842073; Orphanet: 75374; OMIM: PS608415; Human Phenotype Ontology: HP:0030511

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001469263	Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	no assertion criteria provided	Pathogenic (Jun 7, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001469263

Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

no assertion criteria provided

Pathogenic
(Jun 7, 2020)

germline

clinical testing

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 Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001469263.1

#	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: Sep 1, 2024

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