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NM_002900.3(RBP3):c.1037G>A (p.Arg346His) AND Retinitis pigmentosa

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV001103798.4

Allele description [Variation Report for NM_002900.3(RBP3):c.1037G>A (p.Arg346His)]

NM_002900.3(RBP3):c.1037G>A (p.Arg346His)

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.1037G>A (p.Arg346His)
HGVS:
  • NC_000010.11:g.47349521G>A
  • NG_029718.1:g.6151G>A
  • NM_002900.3:c.1037G>AMANE SELECT
  • NP_002891.1:p.Arg346His
  • NC_000010.10:g.48389841C>T
  • NM_002900.2:c.1037G>A
  • P10745:p.Arg346His
Protein change:
R346H
Links:
UniProtKB: P10745#VAR_069678; dbSNP: rs111245635
NCBI 1000 Genomes Browser:
rs111245635
Molecular consequence:
  • NM_002900.3:c.1037G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001260605Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.

Ksantini M, Sénéchal A, Bocquet B, Meunier I, Brabet P, Hamel CP.

Ophthalmic Genet. 2010 Dec;31(4):200-4. doi: 10.3109/13816810.2010.512354.

PubMed [citation]
PMID:
21067480

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 Illumina Laboratory Services, Illumina, SCV001260605.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024