NM_002900.3(RBP3):c.160C>T (p.Gln54Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 13, 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:: RCV001239290.6

Allele description [Variation Report for NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)]

NM_002900.3(RBP3):c.160C>T (p.Gln54Ter)

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.160C>T (p.Gln54Ter)

HGVS:

NC_000010.11:g.47348644C>T
NG_029718.1:g.5274C>T
NM_002900.3:c.160C>TMANE SELECT
NP_002891.1:p.Gln54Ter
NC_000010.10:g.48390718G>A
NM_002900.2:c.160C>T

Protein change:

Q54*

Links:

dbSNP: rs782574616

NCBI 1000 Genomes Browser:

rs782574616

Molecular consequence:

NM_002900.3:c.160C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001412150	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 13, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 9614228, 23105016, 25766589, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001412150

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 13, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Early onset photoreceptor abnormalities induced by targeted disruption of the interphotoreceptor retinoid-binding protein gene.

Liou GI, Fei Y, Peachey NS, Matragoon S, Wei S, Blaner WS, Wang Y, Liu C, Gottesman ME, Ripps H.

J Neurosci. 1998 Jun 15;18(12):4511-20.

PubMed [citation]

PMID:: 9614228
PMCID:: PMC6792688

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS.

Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26.

PubMed [citation]

PMID:: 23105016
PMCID:: PMC3561865

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001412150.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 964958). This variant has not been reported in the literature in individuals affected with RBP3-related conditions. This variant is present in population databases (rs782574616, gnomAD 0.04%). This sequence change creates a premature translational stop signal (p.Gln54*) in the RBP3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RBP3 are known to be pathogenic (PMID: 9614228, 23105016, 25766589).

#	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: Sep 29, 2024

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