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NM_000282.4(PCCA):c.1284+2dup

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 19, 2021)
Last evaluated:
Feb 17, 2021
Accession:
VCV000997846.1
Variation ID:
997846
Description:
1bp duplication
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NM_000282.4(PCCA):c.1284+2dup

Allele ID
985564
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
13q32.3
Genomic location
13: 100302999-100303000 (GRCh38) GRCh38 UCSC
13: 100955253-100955254 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100955254dup
NC_000013.11:g.100303000dup
NG_008768.1:g.218918dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:100302999:T:TT
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 1 criteria provided, single submitter Feb 17, 2021 RCV001293407.1
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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
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: SCV001482004.1
Submitted: (Feb 19, 2021)
Evidence details
Comment:
PS3, PM2, PM3, PP3, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021