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NM_002900.2(RBP3):c.1840G>A (p.Asp614Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Mar 12, 2014
Accession:
VCV000167571.1
Variation ID:
167571
Description:
single nucleotide variant
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NM_002900.2(RBP3):c.1840G>A (p.Asp614Asn)

Allele ID
177261
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q11.22
Genomic location
10: 47350324 (GRCh38) GRCh38 UCSC
10: 48389038 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.10:g.48389038C>T
NC_000010.11:g.47350324G>A
NM_002900.2:c.1840G>A NP_002891.1:p.Asp614Asn missense
... more HGVS
Protein change
D614N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00018
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00017
Links
UniProtKB: P10745#VAR_069689
dbSNP: rs149642039
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 12, 2014 RCV000153815.3
Uncertain significance 1 no assertion criteria provided Jun 27, 2013 RCV000206960.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RBP3 - - GRCh38
GRCh37
117 208

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 12, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000203395.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Uncertain significance
(Jun 27, 2013)
no assertion criteria provided
Method: literature only
Retinitis pigmentosa 66
Allele origin: germline
ClinVar Staff, National Center for Biotechnology Information (NCBI)
Accession: SCV000244060.1
Submitted: (Jun 27, 2013)
Evidence details
Publications
PubMed (1)
Other databases
http://web.expasy.org/variant_...

Citations for this variant

Title Author Journal Year Link
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. den Hollander AI Investigative ophthalmology & visual science 2009 PMID: 19074801
http://web.expasy.org/variant_pages/VAR_069689.html - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RBP3 - - - -

Record last updated Jun 17, 2019