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NM_000532.5(PCCB):c.862G>A (p.Val288Ile)

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 8, 2013)
Last evaluated:
May 17, 2012
Accession:
VCV000038885.2
Variation ID:
38885
Description:
single nucleotide variant
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NM_000532.5(PCCB):c.862G>A (p.Val288Ile)

Allele ID
47488
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q22.3
Genomic location
3: 136298050 (GRCh38) GRCh38 UCSC
3: 136016892 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.136016892G>A
NC_000003.12:g.136298050G>A
NG_008939.1:g.52726G>A
... more HGVS
Protein change
V288I, V308I
Other names
-
Canonical SPDI
NC_000003.12:136298049:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00018
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA343146
dbSNP: rs201984177
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 no assertion criteria provided May 17, 2012 RCV000032134.2
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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
non-pathogenic
(May 17, 2012)
no assertion criteria provided
Method: curation
Propionic Acidemia
Allele origin: not provided
GeneReviews
Accession: SCV000055691.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Benign.

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
Propionic Acidemia Shchelochkov OA - 2016 PMID: 22593918

Text-mined citations for rs201984177...

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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 24, 2021