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NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000785849.6
Variation ID:
785849
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)

Allele ID
708223
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29070740 (GRCh38) GRCh38 UCSC
2: 29293606 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29293606G>A
NC_000002.12:g.29070740G>A
NG_021427.1:g.8522C>T
NM_001029883.3:c.3522C>T MANE Select NP_001025054.1:p.Asp1174= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:29070739:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00277
The Genome Aggregation Database (gnomAD) 0.00459
Exome Aggregation Consortium (ExAC) 0.00276
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00235
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00237
Links
dbSNP: rs188815175
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Nov 23, 2020 RCV000967815.4
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001136592.1
Benign 1 no assertion criteria provided - RCV001701388.1
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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
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001296446.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001115235.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001925713.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001974623.1
Submitted: (Sep 21, 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 rs188815175...

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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 Oct 07, 2021