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NM_000326.5(RLBP1):c.346+3_346+8del

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000283817.5
Variation ID:
283817
Description:
6bp deletion
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NM_000326.5(RLBP1):c.346+3_346+8del

Allele ID
268054
Variant type
Deletion
Variant length
6 bp
Cytogenetic location
15q26.1
Genomic location
15: 89217112-89217117 (GRCh38) GRCh38 UCSC
15: 89760343-89760348 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000326.4:c.346+3_346+8del
NC_000015.10:g.89217112_89217117del
NC_000015.9:g.89760343_89760348del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:89217111:GGCCTC:
Functional consequence
-
Global minor allele frequency (GMAF)
0.00439 ()

Allele frequency
1000 Genomes Project 0.00439
The Genome Aggregation Database (gnomAD) 0.00878
Exome Aggregation Consortium (ExAC) 0.00937
Trans-Omics for Precision Medicine (TOPMed) 0.00687
Trans-Omics for Precision Medicine (TOPMed) 0.00735
The Genome Aggregation Database (gnomAD), exomes 0.00881
The Genome Aggregation Database (gnomAD) 0.00962
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00807
Links
ClinGen: CA7722319
dbSNP: rs56307321
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000267528.2
Benign 1 criteria provided, single submitter Oct 20, 2015 RCV000306563.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000320481.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000377460.2
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000958695.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RLBP1 - - GRCh38
GRCh37
164 200

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 20, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336146.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Fundus Albipunctatus
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394117.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Newfoundland Rod-Cone Dystrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394115.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Retinitis Pigmentosa, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000394116.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001105566.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RLBP1 - - - -

Text-mined citations for rs56307321...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021