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NM_000532.5(PCCB):c.1223del (p.Ile408fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000802012.3
Variation ID:
802012
Description:
1bp deletion
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NM_000532.5(PCCB):c.1223del (p.Ile408fs)

Allele ID
790337
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3q22.3
Genomic location
3: 136327179 (GRCh38) GRCh38 UCSC
3: 136046021 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.136046021del
NC_000003.12:g.136327179del
NG_008939.1:g.81855del
... more HGVS
Protein change
I408fs, I428fs
Other names
-
Canonical SPDI
NC_000003.12:136327178:T:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD) 0.00013
Links
dbSNP: rs758309460
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000987340.3
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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
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: unknown
Mendelics
Accession: SCV001136612.1
Submitted: (Oct 22, 2019)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs758309460...

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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