U.S. flag

An official website of the United States government

NM_000250.2(MPO):c.2031-2A>C AND MPO-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 5, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003398437.6

Allele description [Variation Report for NM_000250.2(MPO):c.2031-2A>C]

NM_000250.2(MPO):c.2031-2A>C

Genes:
LPO:lactoperoxidase [Gene - OMIM - HGNC]
MPO:myeloperoxidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_000250.2(MPO):c.2031-2A>C
HGVS:
  • NC_000017.11:g.58270865T>G
  • NG_009629.1:g.15071A>C
  • NM_000250.2:c.2031-2A>CMANE SELECT
  • LRG_84t1:c.2031-2A>C
  • LRG_84:g.15071A>C
  • NC_000017.10:g.56348226T>G
  • NM_000250.1:c.2031-2A>C
Nucleotide change:
IVS11AS, A-C, -2
Links:
OMIM: 606989.0007; dbSNP: rs35897051
NCBI 1000 Genomes Browser:
rs35897051
Molecular consequence:
  • NM_000250.2:c.2031-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
MPO-related disorder
Synonyms:
MPO-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004104737PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Sep 5, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004104737.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MPO c.2031-2A>C variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant has been reported to be causative for autosomal recessive myeloperoxidase deficiency (Marchetti et al. 2004. PubMed ID: 15108282; Vergnano et al. 2020. PubMed ID: 32758448). This variant is reported in 1.3% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Variants that disrupt the consensus splice acceptor site in MPO are expected to be pathogenic, and this variant has been classified as pathogenic or likely pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/3632). This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 30, 2024