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NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)

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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:
Jun 10, 2020
Accession:
VCV000558001.2
Variation ID:
558001
Description:
7bp deletion
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NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)

Allele ID
542978
Variant type
Deletion
Variant length
7 bp
Cytogenetic location
3q22.3
Genomic location
3: 136327713-136327719 (GRCh38) GRCh38 UCSC
3: 136046555-136046561 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.136046555_136046561del
NC_000003.12:g.136327713_136327719del
NG_008939.1:g.82389_82395del
... more HGVS
Protein change
I480fs, I460fs
Other names
-
Canonical SPDI
NC_000003.12:136327712:TTGCAGT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs1553784721
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 Jun 10, 2020 RCV000674212.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Apr 27, 2018)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: unknown
Counsyl
Accession: SCV000799512.1
Submitted: (Jul 10, 2018)
Evidence details
Pathogenic
(Jun 10, 2020)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001585945.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change results in a frameshift in the PCCB gene (p.Ile460Thrfs*89). While this is not anticipated to result in nonsense mediated decay, it is … (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
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Nizon M Orphanet journal of rare diseases 2013 PMID: 24059531
Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli. Chloupková M Molecular genetics and metabolism 2000 PMID: 11136555

Text-mined citations for rs1553784721...

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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