NM_000539.3(RHO):c.551A>G (p.Gln184Arg) AND Pigmentary retinal dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 4, 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:: RCV002249673.1

Allele description [Variation Report for NM_000539.3(RHO):c.551A>G (p.Gln184Arg)]

NM_000539.3(RHO):c.551A>G (p.Gln184Arg)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.551A>G (p.Gln184Arg)

HGVS:

NC_000003.12:g.129532271A>G
NG_009115.1:g.8633A>G
NM_000539.3:c.551A>GMANE SELECT
NP_000530.1:p.Gln184Arg
NC_000003.11:g.129251114A>G

Protein change:

Q184R

Links:

dbSNP: rs1402468701

NCBI 1000 Genomes Browser:

rs1402468701

Molecular consequence:

NM_000539.3:c.551A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pigmentary retinal dystrophy
Synonyms:: Fundus albipunctatus
Identifiers:: MONDO: MONDO:0007639; MedGen: C0311338; Orphanet: 227796; Orphanet: 52427; OMIM: 136880; Human Phenotype Ontology: HP:0030642

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
SCV002517393	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Likely pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002517393

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Likely pathogenic
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002517393.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine