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NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 6, 2015)
Last evaluated:
Jan 1, 2015
Accession:
VCV000191360.1
Variation ID:
191360
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)

Allele ID
189158
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29073550 (GRCh38) GRCh38 UCSC
2: 29296416 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29296416T>A
NC_000002.12:g.29073550T>A
NG_021427.1:g.5712A>T
NM_001029883.3:c.712A>T MANE Select NP_001025054.1:p.Lys238Ter nonsense
Protein change
K238*
Other names
-
Canonical SPDI
NC_000002.12:29073549:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs863223344
ClinGen: CA279265
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jan 1, 2015 RCV000201436.1
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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 01, 2015)
criteria provided, single submitter
Method: research
Retinitis pigmentosa
Allele origin: germline
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences
Study: Retinitis Pigmentosa
Accession: SCV000223716.1
Submitted: (May 06, 2015)
Comment:
Identification of disease-causing mutations in Iranian patients with autosomal recessive retinitis pigmentosa
Evidence details
Publications
PubMed (1)

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
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. Beheshtian M Archives of Iranian medicine 2015 PMID: 26497376

Text-mined citations for rs863223344...

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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