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NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jun 17, 2021)
Last evaluated:
Jun 17, 2021
Accession:
VCV000812237.4
Variation ID:
812237
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.3289C>T (p.Gln1097Ter)

Allele ID
800467
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29070973 (GRCh38) GRCh38 UCSC
2: 29293839 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29293839G>A
NC_000002.12:g.29070973G>A
NG_021427.1:g.8289C>T
NM_001029883.3:c.3289C>T MANE Select NP_001025054.1:p.Gln1097Ter nonsense
Protein change
Q1097*
Other names
-
Canonical SPDI
NC_000002.12:29070972:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
dbSNP: rs369937337
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, multiple submitters, no conflicts Jun 17, 2021 RCV001205031.3
Pathogenic 1 no assertion criteria provided Jun 23, 2019 RCV001002900.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jan 28, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001376267.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Gln1097*) in the PCARE gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jun 17, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
(Autosomal recessive inheritance)
Allele origin: germline
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001762218.1
Submitted: (Jun 17, 2021)
Evidence details
Pathogenic
(Jun 23, 2019)
no assertion criteria provided
Method: research
Retinitis pigmentosa
Allele origin: inherited
Sharon lab,Hadassah-Hebrew University Medical Center
Accession: SCV001160935.1
Submitted: (Jun 25, 2019)
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
Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing. Yang L PloS one 2015 PMID: 26496393
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. Beryozkin A Scientific reports 2015 PMID: 26306921
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. Khateb S Journal of medical genetics 2014 PMID: 24780881
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations. Bocquet B Molecular vision 2013 PMID: 24339724
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Nishimura DY American journal of human genetics 2010 PMID: 20398886

Text-mined citations for rs369937337...

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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 Oct 08, 2021