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NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Oct 5, 2017)
Last evaluated:
Aug 22, 2016
Accession:
VCV000218262.1
Variation ID:
218262
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)

Allele ID
214892
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100268732 (GRCh38) GRCh38 UCSC
13: 100920986 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100920986G>A
NC_000013.11:g.100268732G>A
NM_000282.4:c.863G>A MANE Select NP_000273.2:p.Arg288Lys missense
... more HGVS
Protein change
R288K, R262K
Other names
-
Canonical SPDI
NC_000013.11:100268731:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA10575827
dbSNP: rs879253810
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 22, 2016 RCV000236908.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCCA - - GRCh38
GRCh37
510 599

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2014)
criteria provided, single submitter
Method: research
Propionic Acidemia
Allele origin: germline
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital
Study: ORGANIC ACIDURIAS
Accession: SCV000256853.1
Submitted: (Nov 04, 2015)
Comment:
Missense mutation
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Aug 22, 2016)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV000631909.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces arginine with lysine at codon 288 of the PCCA protein (p.Arg288Lys). The arginine residue is highly conserved and there is a … (more)

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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Title Author Journal Year Link
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. Gupta D Genetic testing and molecular biomarkers 2016 PMID: 27227689

Text-mined citations for rs879253810...

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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 22, 2021