NM_002900.3(RBP3):c.1631G>A (p.Arg544His) AND not specified

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 8, 2014
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:: RCV000080036.15

Allele description [Variation Report for NM_002900.3(RBP3):c.1631G>A (p.Arg544His)]

NM_002900.3(RBP3):c.1631G>A (p.Arg544His)

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.1631G>A (p.Arg544His)

HGVS:

NC_000010.11:g.47350115G>A
NG_029718.1:g.6745G>A
NM_002900.3:c.1631G>AMANE SELECT
NP_002891.1:p.Arg544His
NC_000010.10:g.48389247C>T
NM_002900.2:c.1631G>A
P10745:p.Arg544His

Protein change:

R544H

Links:

UniProtKB: P10745#VAR_069686; dbSNP: rs41284962

NCBI 1000 Genomes Browser:

rs41284962

Molecular consequence:

NM_002900.3:c.1631G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000111930	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Nov 8, 2014)	germline	clinical testing	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

SCV000111930

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Nov 8, 2014)

germline

clinical testing

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	unknown	2	not provided	not provided	not provided	not provided	clinical testing

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 Eurofins Ntd Llc (ga), SCV000111930.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (1)

#	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		2	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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