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NM_002900.3(RBP3):c.2077G>A (p.Val693Met) 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:
RCV000206904.1

Allele description [Variation Report for NM_002900.3(RBP3):c.2077G>A (p.Val693Met)]

NM_002900.3(RBP3):c.2077G>A (p.Val693Met)

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.2077G>A (p.Val693Met)
HGVS:
  • NC_000010.11:g.47350561G>A
  • NG_029718.1:g.7191G>A
  • NM_002900.3:c.2077G>AMANE SELECT
  • NP_002891.1:p.Val693Met
  • NC_000010.10:g.48388801C>T
  • NM_002900.2:c.2077G>A
  • P10745:p.Val693Met
Protein change:
V693M
Links:
UniProtKB: P10745#VAR_069693; dbSNP: rs112888313
NCBI 1000 Genomes Browser:
rs112888313
Molecular consequence:
  • NM_002900.3:c.2077G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000244064ClinVar Staff, National Center for Biotechnology Information (NCBI)
no assertion criteria provided
Uncertain significance
(Jun 27, 2013) 		germlineliterature only

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature 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), SCV000244064.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024