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NM_000282.4(PCCA):c.134_135del (p.Leu45fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 4, 2015)
Last evaluated:
Jan 1, 2015
Accession:
VCV000218261.1
Variation ID:
218261
Description:
2bp deletion
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NM_000282.4(PCCA):c.134_135del (p.Leu45fs)

Allele ID
214884
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
13q32.3
Genomic location
13: 100102911-100102912 (GRCh38) GRCh38 UCSC
13: 100755165-100755166 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.100755165_100755166del
NC_000013.11:g.100102911_100102912del
NM_000282.4:c.134_135del MANE Select NP_000273.2:p.Leu45fs frameshift
... more HGVS
Protein change
L45fs
Other names
-
Canonical SPDI
NC_000013.11:100102910:TA:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10575820
dbSNP: rs879253809
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 Jan 1, 2015 RCV000236562.1
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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
(Jan 01, 2015)
criteria provided, single submitter
Method: research
Propionic Acidemia
Allele origin: germline
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital
Study: ORGANIC ACIDURIAS
Accession: SCV000256852.1
Submitted: (Nov 04, 2015)
Comment:
Small deletion mutation
Evidence details
Publications
PubMed (1)

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

Text-mined citations for rs879253809...

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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 Jun 22, 2021