Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_006269.2(RP1):c.1498_1499del (p.Met500fs)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Apr 26, 2021)
Last evaluated:
Apr 8, 2021
Accession:
VCV000437947.2
Variation ID:
437947
Description:
2bp deletion
Help

NM_006269.2(RP1):c.1498_1499del (p.Met500fs)

Allele ID
431723
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
8q12.1
Genomic location
8: 54625380-54625381 (GRCh38) GRCh38 UCSC
8: 55537940-55537941 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.55537940_55537941del
NC_000008.11:g.54625380_54625381del
NG_009840.1:g.14314_14315del
... more HGVS
Protein change
M500fs
Other names
-
Canonical SPDI
NC_000008.11:54625379:AT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA4751389
dbSNP: rs765129639
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 8, 2021 RCV001376315.1
Likely pathogenic 1 no assertion criteria provided Jan 1, 2015 RCV000504978.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RP1 - - GRCh38
GRCh37
657 684

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 08, 2021)
criteria provided, single submitter
Method: research
Retinitis pigmentosa 1
Allele origin: germline
Ocular Genomics Institute, Massachusetts Eye and Ear
Accession: SCV001573417.1
Submitted: (Apr 26, 2021)
Evidence details
Publications
PubMed (1)
Comment:
The RP1 c.1498_1499del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we … (more)
Likely pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Retinal dystrophy
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598679.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Carss KJ American journal of human genetics 2017 PMID: 28041643

Text-mined citations for rs765129639...

Help
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 Oct 08, 2021