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NM_001029883.3(PCARE):c.3114G>C (p.Val1038=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000193140.5
Variation ID:
193140
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.3114G>C (p.Val1038=)

Allele ID
190305
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29071148 (GRCh38) GRCh38 UCSC
2: 29294014 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29294014C>G
NC_000002.12:g.29071148C>G
NM_001029883.3:c.3114G>C MANE Select NP_001025054.1:p.Val1038= synonymous
NG_021427.1:g.8114G>C
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:29071147:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00140
The Genome Aggregation Database (gnomAD) 0.00099
Trans-Omics for Precision Medicine (TOPMed) 0.00149
1000 Genomes Project 0.00120
Links
ClinGen: CA200351
dbSNP: rs140790266
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jul 30, 2014 RCV000173186.1
Benign 1 criteria provided, single submitter Dec 2, 2020 RCV000905069.3
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001138832.1
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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 benign
(Jul 30, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224279.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001298914.1
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
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001049630.3
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.

Text-mined citations for rs140790266...

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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 Jun 14, 2021