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NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000335668.6
Variation ID:
335668
Description:
single nucleotide variant
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NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys)

Allele ID
286728
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.2
Genomic location
2: 29073583 (GRCh38) GRCh38 UCSC
2: 29296449 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.29296449C>T
NC_000002.12:g.29073583C>T
NM_001029883.3:c.679G>A MANE Select NP_001025054.1:p.Glu227Lys missense
... more HGVS
Protein change
E227K
Other names
-
Canonical SPDI
NC_000002.12:29073582:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.03774 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.03101
Trans-Omics for Precision Medicine (TOPMed) 0.03409
1000 Genomes Project 0.03774
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03157
Exome Aggregation Consortium (ExAC) 0.00950
Links
UniProtKB: A6NGG8#VAR_065267
ClinGen: CA1592604
dbSNP: rs114057537
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000381424.2
Benign 1 criteria provided, single submitter Dec 5, 2020 RCV000946600.3
Benign 1 criteria provided, single submitter Jul 5, 2018 RCV001000415.1
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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
Benign
(Jul 05, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157218.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Retinitis pigmentosa
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000429892.3
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 05, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001092744.3
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.

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 rs114057537...

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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