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NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 6, 2020)
Last evaluated:
Oct 18, 2019
Accession:
VCV000829908.1
Variation ID:
829908
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter)

Allele ID
818214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29073034 (GRCh38) GRCh38 UCSC
2: 29295900 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29295900G>A
NC_000002.12:g.29073034G>A
NG_021427.1:g.6228C>T
NM_001029883.3:c.1228C>T MANE Select NP_001025054.1:p.Gln410Ter nonsense
Protein change
Q410*
Other names
-
Canonical SPDI
NC_000002.12:29073033:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1572829010
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Oct 18, 2019 RCV001029855.1
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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
Likely pathogenic
(Oct 18, 2019)
no assertion criteria provided
Method: clinical testing
Retinitis pigmentosa 54
Allele origin: germline
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
Accession: SCV001192641.1
Submitted: (Mar 06, 2020)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1572829010...

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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