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NM_000532.5(PCCB):c.517_518del (p.Leu173fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 2, 2021)
Last evaluated:
Oct 16, 2020
Accession:
VCV000552452.7
Variation ID:
552452
Description:
2bp deletion
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NM_000532.5(PCCB):c.517_518del (p.Leu173fs)

Allele ID
542957
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
3q22.3
Genomic location
3: 136262038-136262039 (GRCh38) GRCh38 UCSC
3: 135980880-135980881 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.135980881_135980882del
NC_000003.12:g.136262039_136262040del
NG_008939.1:g.16715_16716del
... more HGVS
Protein change
L173fs, L193fs
Other names
-
Canonical SPDI
NC_000003.12:136262037:TTT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs755776820
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 3 criteria provided, multiple submitters, no conflicts Oct 16, 2020 RCV000667712.4
Pathogenic 1 criteria provided, single submitter Aug 16, 2019 RCV001592849.3
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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: SCV000792206.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: unknown
Mendelics
Accession: SCV001136607.1
Submitted: (Oct 22, 2019)
Evidence details
Pathogenic
(Oct 16, 2020)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001399808.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Leu173Glyfs*56) in the PCCB gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Aug 16, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001826849.1
Submitted: (Sep 02, 2021)
Evidence details
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (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
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients. Lévesque S JIMD reports 2012 PMID: 23430860
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 rs755776820...

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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