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NM_000532.5(PCCB):c.838dup (p.Leu280fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV000552435.3
Variation ID:
552435
Description:
1bp duplication
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NM_000532.5(PCCB):c.838dup (p.Leu280fs)

Allele ID
542927
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
3q22.3
Genomic location
3: 136298022-136298023 (GRCh38) GRCh38 UCSC
3: 136016864-136016865 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.136016868dup
NC_000003.12:g.136298026dup
NG_008939.1:g.52702dup
... more HGVS
Protein change
L280fs, L300fs
Other names
-
Canonical SPDI
NC_000003.12:136298022:CCCC:CCCCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs769968548
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 14, 2020 RCV000667695.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PCCB - - GRCh38
GRCh37
449 475

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 09, 2017)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: unknown
Counsyl
Accession: SCV000792186.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001214519.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Leu280Profs*11) in the PCCB gene. It is expected to result in an absent or disrupted protein … (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
Two frequent mutations associated with the classic form of propionic acidemia in Taiwan. Chiu YH Biochemical genetics 2014 PMID: 24863100
Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Desviat LR Molecular genetics and metabolism 2004 PMID: 15464417

Text-mined citations for rs769968548...

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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 08, 2021