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NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 24, 2020
Accession:
VCV000618548.3
Variation ID:
618548
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)

Allele ID
609485
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29073732 (GRCh38) GRCh38 UCSC
2: 29296598 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29296598G>A
NC_000002.12:g.29073732G>A
NG_021427.1:g.5530C>T
NM_001029883.3:c.530C>T MANE Select NP_001025054.1:p.Pro177Leu missense
Protein change
P177L
Other names
-
Canonical SPDI
NC_000002.12:29073731:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00112
Exome Aggregation Consortium (ExAC) 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00147
1000 Genomes Project 0.00120
The Genome Aggregation Database (gnomAD) 0.00127
Links
dbSNP: rs190791051
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 24, 2020 RCV000757048.3
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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
(Jun 19, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885130.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The C2orf71 c.530C>T; p.Pro177Leu variant (rs190791051) is reported in the medical literature in an individual with retinitis pigmentosa (Haer-Wigman 2017). The variant is found in … (more)
Likely benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001711613.1
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.

Text-mined citations for rs190791051...

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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 Sep 29, 2021