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NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 15, 2019)
Last evaluated:
Nov 23, 2017
Accession:
VCV000438049.2
Variation ID:
438049
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)

Allele ID
431652
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29073504 (GRCh38) GRCh38 UCSC
2: 29296370 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29296370C>T
NC_000002.12:g.29073504C>T
NM_001029883.3:c.758G>A MANE Select NP_001025054.1:p.Trp253Ter nonsense
NG_021427.1:g.5758G>A
Protein change
W253*
Other names
-
Canonical SPDI
NC_000002.12:29073503:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA1592578
dbSNP: rs750987123
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Nov 23, 2017 RCV000504934.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCARE - - GRCh38
GRCh37
577 602

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 23, 2017)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240914.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Retinal dystrophy
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598876.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (2)

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
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
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Nishimura DY American journal of human genetics 2010 PMID: 20398886

Text-mined citations for rs750987123...

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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 Jan 16, 2021