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NM_000282.4(PCCA):c.717-2A>G

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 19, 2021)
Last evaluated:
Feb 17, 2021
Accession:
VCV000850378.3
Variation ID:
850378
Description:
single nucleotide variant
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NM_000282.4(PCCA):c.717-2A>G

Allele ID
852517
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100262727 (GRCh38) GRCh38 UCSC
13: 100914981 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100914981A>G
NC_000013.11:g.100262727A>G
NG_008768.1:g.178645A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:100262726:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 17, 2021 RCV001054532.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(Feb 05, 2019)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001218850.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 9 of the PCCA gene. It is expected to disrupt RNA splicing and likely results … (more)
Pathogenic
(Feb 17, 2021)
criteria provided, single submitter
Method: research, in vitro
Propionic acidemia
Allele origin: germline, not applicable
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
Accession: SCV001482002.1
Submitted: (Feb 19, 2021)
Evidence details
Comment:
PVS1, PM2, PP4

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
[Gene mutation analysis in patients with propionic acidemia]. Hu YH Zhonghua er ke za zhi = Chinese journal of pediatrics 2008 PMID: 19099776
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Desviat LR Molecular genetics and metabolism 2004 PMID: 15464417

Record last updated Oct 24, 2021