NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg) AND Retinitis pigmentosa 66

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 27, 2013
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:: RCV000206967.1

Allele description [Variation Report for NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg)]

NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg)

Gene:

RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.22

Genomic location:

Preferred name:

NM_002900.3(RBP3):c.1553A>G (p.Gln518Arg)

HGVS:

NC_000010.11:g.47350037A>G
NG_029718.1:g.6667A>G
NM_002900.3:c.1553A>GMANE SELECT
NP_002891.1:p.Gln518Arg
NC_000010.10:g.48389325T>C
NM_002900.2:c.1553A>G
P10745:p.Gln518Arg

Protein change:

Q518R

Links:

UniProtKB: P10745#VAR_069683; dbSNP: rs563600593

NCBI 1000 Genomes Browser:

rs563600593

Molecular consequence:

NM_002900.3:c.1553A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 66 (RP66)
Identifiers:: MONDO: MONDO:0014093; MedGen: C3715216; Orphanet: 791; OMIM: 615233

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000244054	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no assertion criteria provided	Uncertain significance (Jun 27, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000244054

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no assertion criteria provided

Uncertain significance
(Jun 27, 2013)

germline

literature only

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

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	literature only

Citations

PubMed

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

den Hollander AI, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson EL.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1864-72. doi: 10.1167/iovs.08-2497. Epub 2008 Dec 13.

PubMed [citation]

PMID:: 19074801
PMCID:: PMC2823395

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000244054.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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 29, 2024

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