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NM_000532.5(PCCB):c.654+462A>G

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 9, 2020
Accession:
VCV000012019.2
Variation ID:
12019
Description:
single nucleotide variant
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NM_000532.5(PCCB):c.654+462A>G

Allele ID
27058
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q22.3
Genomic location
3: 136284409 (GRCh38) GRCh38 UCSC
3: 136003251 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.136003251A>G
NC_000003.12:g.136284409A>G
NG_008939.1:g.39085A>G
... more HGVS
Protein change
-
Other names
IVS6, A-G, +462
Canonical SPDI
NC_000003.12:136284408:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 232050.0009
dbSNP: rs1576327011
Varsome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Sep 9, 2020 RCV000012799.23
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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
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001591311.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change falls in intron 6 of the PCCB gene. It does not directly change the encoded amino acid sequence of the PCCB protein. … (more)
Pathogenic
(Dec 01, 2007)
no assertion criteria provided
Method: literature only
PROPIONIC ACIDEMIA
Allele origin: germline
OMIM
Accession: SCV000033039.1
Submitted: (Dec 30, 2010)
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
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. Pérez B Journal of inherited metabolic disease 2010 PMID: 20549364
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Rincón A American journal of human genetics 2007 PMID: 17966092

Text-mined citations for rs1576327011...

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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