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NM_181697.3(PRDX1):c.515-2A>T

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Mar 6, 2018)
Last evaluated:
Sep 27, 2018
Accession:
VCV000495210.2
Variation ID:
495210
Description:
single nucleotide variant
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NM_181697.3(PRDX1):c.515-2A>T

Allele ID
486709
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45511416 (GRCh38) GRCh38 UCSC
1: 45977088 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45977088T>A
NC_000001.11:g.45511416T>A
NG_013378.1:g.16233T>A
... more HGVS
Protein change
-
Other names
IVS5AS, -2, A-T
Canonical SPDI
NC_000001.11:45511415:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA340135232
OMIM: 176763.0002
dbSNP: rs1379672870
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 27, 2018 RCV000585793.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MMACHC - - GRCh38
GRCh37
324 348
PRDX1 - - GRCh38
GRCh37
8 31

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Sep 27, 2018)
no assertion criteria provided
Method: literature only
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000693722.2
Submitted: (Mar 06, 2018)
Publications:
PubMed (1)
PubMed: 29396438
Comment on evidence:
In a female (WG-3838) of Japanese and Korean ancestry with cbl-type methylmalonic aciduria and homocystinuria (MAHCC; 277400), who died at 2 months of age, Gueant … (more)

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
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Guéant JL Nature communications 2018 PMID: 29396438

Text-mined citations for rs1379672870...

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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