Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 24, 2020)
Last evaluated:
Nov 4, 2019
Accession:
VCV000811353.4
Variation ID:
811353
Description:
single nucleotide variant
Help

NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn)

Allele ID
799298
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29073148 (GRCh38) GRCh38 UCSC
2: 29296014 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29296014C>T
NC_000002.12:g.29073148C>T
NM_001029883.3:c.1114G>A MANE Select NP_001025054.1:p.Asp372Asn missense
NG_021427.1:g.6114G>A
Protein change
D372N
Other names
-
Canonical SPDI
NC_000002.12:29073147:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00003
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
dbSNP: rs201284350
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Nov 4, 2019 RCV001247310.2
Uncertain significance 1 criteria provided, single submitter Apr 9, 2019 RCV001001156.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 09, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001158305.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The C2orf71 (PCARE) c.1114G>A; p.Asp372Asn variant (rs201284350) is reported in the literature in an individual affected with retinitis pigmentosa, though it was not demonstrated to … (more)
Uncertain significance
(Nov 04, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001420722.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces aspartic acid with asparagine at codon 372 of the PCARE protein (p.Asp372Asn). The aspartic acid residue is highly conserved and there … (more)
Uncertain significance
(May 04, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001367888.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP5.

Functional evidence

Help
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

Help
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 rs201284350...

Help
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 Jan 16, 2021