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NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 4, 2020
Accession:
VCV000854244.3
Variation ID:
854244
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)

Allele ID
826267
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29074254 (GRCh38) GRCh38 UCSC
2: 29297120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29297120C>T
NC_000002.12:g.29074254C>T
NM_001029883.3:c.8G>A MANE Select NP_001025054.1:p.Cys3Tyr missense
NG_021427.1:g.5008G>A
Protein change
C3Y
Other names
-
Canonical SPDI
NC_000002.12:29074253:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 4, 2020 RCV001059253.2
Uncertain significance 1 criteria provided, single submitter Jan 17, 2019 RCV001074612.1
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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
Uncertain significance
(Jan 17, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240203.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Uncertain significance
(Feb 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001223873.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces cysteine with tyrosine at codon 3 of the PCARE protein (p.Cys3Tyr). The cysteine residue is highly conserved and there is a … (more)

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.

Record last updated Mar 07, 2021