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NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000894901.2
Variation ID:
894901
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.2539G>C (p.Glu847Gln)

Allele ID
884661
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29071723 (GRCh38) GRCh38 UCSC
2: 29294589 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29294589C>G
NC_000002.12:g.29071723C>G
NM_001029883.3:c.2539G>C MANE Select NP_001025054.1:p.Glu847Gln missense
NG_021427.1:g.7539G>C
Protein change
E847Q
Other names
-
Canonical SPDI
NC_000002.12:29071722:C:G
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 Jan 15, 2018 RCV001136692.1
Benign 1 criteria provided, single submitter Oct 27, 2020 RCV001511143.1
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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 15, 2018)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001296551.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001718335.1
Submitted: (Jan 07, 2021)
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.

Record last updated Jun 14, 2021