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NM_000532.5(PCCB):c.749A>G (p.His250Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 26, 2019
Accession:
VCV000851161.3
Variation ID:
851161
Description:
single nucleotide variant
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NM_000532.5(PCCB):c.749A>G (p.His250Arg)

Allele ID
827568
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q22.3
Genomic location
3: 136293850 (GRCh38) GRCh38 UCSC
3: 136012692 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.136012692A>G
NC_000003.12:g.136293850A>G
NM_000532.5:c.749A>G MANE Select NP_000523.2:p.His250Arg missense
... more HGVS
Protein change
H250R, H270R
Other names
-
Canonical SPDI
NC_000003.12:136293849:A:G
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
Uncertain significance 2 criteria provided, single submitter Mar 26, 2019 RCV001055500.3
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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
Uncertain significance
(Mar 26, 2019)
criteria provided, single submitter
Method: clinical testing
Propionic acidemia
Allele origin: germline
Invitae
Accession: SCV001219897.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces histidine with arginine at codon 250 of the PCCB protein (p.His250Arg). The histidine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Propionic acidemia
Allele origin: germline
Natera, Inc.
Accession: SCV001454519.1
Submitted: (Dec 28, 2020)
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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Title Author Journal Year Link
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. Rivera-Barahona A Molecular genetics and metabolism 2018 PMID: 30274917

Record last updated Aug 27, 2021