ClinVar Genomic variation as it relates to human health
NM_000250.2(MPO):c.2031-2A>C
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic(6); Likely pathogenic(5); Uncertain significance(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000250.2(MPO):c.2031-2A>C
Variation ID: 3632 Accession: VCV000003632.55
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q22 17: 58270865 (GRCh38) [ NCBI UCSC ] 17: 56348226 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 5, 2015 Nov 24, 2024 Nov 16, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000250.2:c.2031-2A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor NC_000017.11:g.58270865T>G NC_000017.10:g.56348226T>G NG_009629.1:g.15071A>C LRG_84:g.15071A>C LRG_84t1:c.2031-2A>C - Protein change
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- Other names
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IVS11AS, A-C, -2
- Canonical SPDI
- NC_000017.11:58270864:T:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00080 (G)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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1000 Genomes Project 30x 0.00062
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00400
Exome Aggregation Consortium (ExAC) 0.00426
The Genome Aggregation Database (gnomAD), exomes 0.00437
The Genome Aggregation Database (gnomAD) 0.00472
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00523
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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LPO | - | - |
GRCh38 GRCh37 |
47 | 64 | |
MPO | - | - |
GRCh38 GRCh37 |
45 | 111 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic/Likely pathogenic (11) |
criteria provided, multiple submitters, no conflicts
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Mar 26, 2024 | RCV000003816.30 | |
Pathogenic/Likely pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Nov 16, 2024 | RCV000265536.41 | |
MPO-related disorder
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Pathogenic (1) |
no assertion criteria provided
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Sep 5, 2024 | RCV003398437.6 |
Uncertain significance (1) |
criteria provided, single submitter
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May 1, 2024 | RCV004689407.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 12, 2022 | RCV002482823.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Sep 26, 2014)
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criteria provided, single submitter
Method: clinical testing
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Myeloperoxidase deficiency
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Study: CSER-MedSeq
Accession: SCV000221199.2 First in ClinVar: Apr 01, 2015 Last updated: Jul 05, 2015 |
Comment:
The 2031-2A>C variant in MPO has been previously identified in 1 compound heterozygous and 2 homozygous individuals with myeloperoxidase deficiency (Marchetti 2004). This variant is … (more)
The 2031-2A>C variant in MPO has been previously identified in 1 compound heterozygous and 2 homozygous individuals with myeloperoxidase deficiency (Marchetti 2004). This variant is located in the 3' splice region and functional studies indicate that this variant leads to altered splicing (Marchetti 2004). In summary, the 2031-2A>C variant meets our criteria to be considered causative for myeloperoxidase deficiency (MPOD) in a recessive manner. However, the clinical relevance of MPOD is not well-established. (less)
Number of individuals with the variant: 2
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Likely pathogenic
(Jul 08, 2019)
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criteria provided, single submitter
Method: clinical testing
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Myeloperoxidase deficiency
Affected status: unknown
Allele origin:
germline
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Knight Diagnostic Laboratories, Oregon Health and Sciences University
Accession: SCV001448821.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 1
Clinical Features:
Seizures (present) , Language impairment (present) , Speech articulation difficulties (present) , Global developmental delay (present) , Abnormality of the optic nerve (present) , Delayed … (more)
Seizures (present) , Language impairment (present) , Speech articulation difficulties (present) , Global developmental delay (present) , Abnormality of the optic nerve (present) , Delayed speech and language development (present) , Short stature (present) , Chronic diarrhea (present) , Dolichocephaly (present) , Deeply set eye (present) , Frontal bossing (present) , Generalized hypotonia (present) , Small for gestational age (present) , Recurrent hypoglycemia (present) , Episodic fever (present) , Lactic acidosis (present) , Chronic neutropenia (present) , Motor aphasia (present) , Recurrent bacterial skin infections (present) (less)
Sex: male
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Pathogenic
(Mar 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Myeloperoxidase deficiency
Affected status: unknown
Allele origin:
germline
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Payam Genetics Center, General Welfare Department of North Khorasan Province
Accession: SCV003924023.1
First in ClinVar: May 13, 2023 Last updated: May 13, 2023 |
Number of individuals with the variant: 1
Age: 0-9 years
Sex: male
Ethnicity/Population group: Iranian
Geographic origin: Iran
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002009349.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Likely pathogenic
(Nov 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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Myeloperoxidase deficiency
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002023510.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Mar 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Myeloperoxidase deficiency
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
Accession: SCV004806673.1
First in ClinVar: Apr 06, 2024 Last updated: Apr 06, 2024 |
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Likely pathogenic
(Jan 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Myeloperoxidase deficiency
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001439966.1
First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020 |
Comment:
This variant was identified as compound heterozygous.
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Likely pathogenic
(Mar 30, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: yes
Allele origin:
germline
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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502221.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 3
Secondary finding: no
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Pathogenic
(Apr 12, 2022)
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criteria provided, single submitter
Method: clinical testing
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Alzheimer disease type 1
Myeloperoxidase deficiency
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002778311.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Uncertain significance
(May 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV005184390.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
Variant summary: MPO c.2031-2A>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to … (more)
Variant summary: MPO c.2031-2A>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes the canonical 3' acceptor site. At least one publication reports experimental evidence that this variant affects mRNA splicing , and the predominant products were truncated MPO (Haskamp_2020), such mRNA products are not subject to NMD. The variant allele was found at a frequency of 0.0044 in 251174 control chromosomes in the gnomAD database, including 2 homozygotes (gnomAD v2), and in gnomAD v4 dataset, this vairant was found a frequency of 0.0066 in 1179978 control chromosomes in European (non-Finnish) group with 25 homozygotes, suggesting that the variant may be benign. c.2031-2A>C has been reported in the literature in at-least three individuals affected with Myeloperoxidase Deficiency (example, Marchetti_2004). Additionally, no pathogenic missense or in-frame changes from the last exon have been reported in ClinVar, suggesting the disrupted last exon may not be functionally important. The following publications have been ascertained in the context of this evaluation (PMID: 32758447, 15108282). ClinVar contains an entry for this variant (Variation ID: 3632). Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
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Likely pathogenic
(Jan 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001334657.25
First in ClinVar: Jun 08, 2020 Last updated: Oct 20, 2024 |
Comment:
MPO: PM3, PS3:Moderate, PM2:Supporting, PP3
Number of individuals with the variant: 7
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Pathogenic
(Nov 16, 2024)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000329427.11
First in ClinVar: Dec 06, 2016 Last updated: Nov 24, 2024 |
Comment:
Reported as a heterozygous germline variant in multiple individuals with myeloid neoplasms (PMID: 35761024); Splice site variant that destroys the canonical splice acceptor site in … (more)
Reported as a heterozygous germline variant in multiple individuals with myeloid neoplasms (PMID: 35761024); Splice site variant that destroys the canonical splice acceptor site in intron 11, and causes the activation of a cryptic splice site located 109 nucleotides upstream of the authentic splice site (PMID: 15108282); This variant is associated with the following publications: (PMID: 20974672, 25714468, 34662886, 35026467, 24385801, 17384005, 15108282, 26764160, 26822949, 27301573, 27827828, 30487145, 31980526, 32758448, 34426522, 32531373, 35761024, 36730508, 37868038, 38170104, 32758447) (less)
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Pathogenic
(May 22, 2023)
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no assertion criteria provided
Method: clinical testing
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Myeloperoxidase deficiency
Affected status: yes
Allele origin:
maternal
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Undiagnosed Diseases Network, NIH
Study: Undiagnosed Diseases Network (NIH), UDN
Accession: SCV004242199.1 First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
Number of individuals with the variant: 1
Clinical Features:
Recurrent urinary tract infections (present) , Neurogenic bladder (present) , Urinary retention (present) , Autism (present) , Impaired social interactions (present) , Pruritus (present) , … (more)
Recurrent urinary tract infections (present) , Neurogenic bladder (present) , Urinary retention (present) , Autism (present) , Impaired social interactions (present) , Pruritus (present) , Seizure (present) , Absent speech (present) , Obesity (present) , Iron deficiency anemia (present) , Hyperammonemia (present) , Gastroesophageal reflux (present) , Abdominal pain (present) , Hiatus hernia (present) , Broad-based gait (present) , Aganglionic megacolon (present) , Headache (present) , Sleep abnormality (present) , Developmental regression (present) , Episodic vomiting (present) , Gastroparesis (present) , Gastrointestinal dysmotility (present) , Recurrent infections (present) , Recurrent candida infections (present) , Focal emotional seizure with laughing (present) , Intellectual disability, severe (present) , Chronic sinusitis (present) , Dermatographic urticaria (present) , Abnormal autonomic nervous system physiology (present) , Fatigue (present) , Chronic constipation (present) (less)
Zygosity: Compound Heterozygote
Family history: no
Age: 30-39 years
Sex: female
Tissue: Blood
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Pathogenic
(Sep 05, 2024)
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no assertion criteria provided
Method: clinical testing
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MPO-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004104737.3
First in ClinVar: Nov 20, 2023 Last updated: Oct 08, 2024 |
Comment:
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 … (more)
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. (less)
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Pathogenic
(Jan 06, 2020)
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no assertion criteria provided
Method: curation
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Myeloperoxidase deficiency
Affected status: unknown
Allele origin:
germline
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Reproductive Health Research and Development, BGI Genomics
Accession: SCV001142475.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
Comment:
NG_009629.1(NM_000250.1):c.2031-2A>C in the MPO gene has an allele frequency of 0.013 in Ashkenazi Jewish subpopulation in the gnomAD database. This variant is predicted to cause … (more)
NG_009629.1(NM_000250.1):c.2031-2A>C in the MPO gene has an allele frequency of 0.013 in Ashkenazi Jewish subpopulation in the gnomAD database. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was detected in individual with autosomal recessive Myeloperoxidase deficiency, compound heterozygous with c.1566_1579del14 (PMID:15108282). The patient's phenotype is highly specific for the MPO gene (PMID:15108282). Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP criteria applied:PVS1; PM3; PP4; BS1. (less)
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Pathogenic
(May 01, 2004)
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no assertion criteria provided
Method: literature only
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MYELOPEROXIDASE DEFICIENCY
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000023981.4
First in ClinVar: Apr 04, 2013 Last updated: Dec 19, 2020 |
Comment on evidence:
In 2 female Italian patients (patients 1 and 7) with complete myeloperoxidase deficiency (MPOD; 254600), Marchetti et al. (2004) identified homozygosity for a 2031A-C transversion … (more)
In 2 female Italian patients (patients 1 and 7) with complete myeloperoxidase deficiency (MPOD; 254600), Marchetti et al. (2004) identified homozygosity for a 2031A-C transversion in the 3-prime splice site of intron 11 of the MPO gene (IVS11AS-2A-C). In a third patient (patient 13) with complete MPOD, they identified the IVS11AS-2A-C transversion in compound heterozygous state with a 14-bp deletion in exon 9 of the MPO gene (606989.0004). Because of difficulty in obtaining bone marrow samples from MPO-deficient patients to study MPO mRNA splicing in vivo, the authors set up a eukaryotic expression system to investigate how the IVS11AS-2-A-C mutation alters MPO pre-mRNA splicing. Activation of a cryptic 3-prime splice site located 109 bp upstream of the authentic 3-prime splice site was observed. The 109-bp insertion caused a frameshift, resulting in a premature stop codon and an abnormal MPO precursor lacking enzymatic activity. (less)
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Likely pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001743601.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
|
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001957582.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001971230.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
|
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Likely pathogenic
(May 01, 2022)
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no assertion criteria provided
Method: clinical testing
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Myeloperoxidase deficiency
Affected status: yes
Allele origin:
germline
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Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
Accession: SCV002573417.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
|
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not provided
(-)
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no classification provided
Method: phenotyping only
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Myeloperoxidase deficiency
Affected status: yes
Allele origin:
maternal
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GenomeConnect, ClinGen
Accession: SCV000607007.1
First in ClinVar: Oct 14, 2017 Last updated: Oct 14, 2017 |
Comment:
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical … (more)
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. (less)
Clinical Features:
Tall stature (present) , Growth hormone excess (present) , Growth hormone deficiency (present) , Failure to thrive (present) , Short stature (present) , Hemihypertrophy (present) … (more)
Tall stature (present) , Growth hormone excess (present) , Growth hormone deficiency (present) , Failure to thrive (present) , Short stature (present) , Hemihypertrophy (present) , Obesity (present) , Overgrowth (present) , Abnormality of the parathyroid physiology (present) , Hyperthyroidism (present) , Goiter (present) , Adrenal hyperplasia (present) , Hypogonadism (present) , Precocious puberty (present) , Diabetes insipidus (present) , Delayed puberty (present) , Type I diabetes mellitus (present) , Type II diabetes mellitus (present) , Oral-pharyngeal dysphagia (present) , Abnormality of the neck (present) , Abnormality of the mouth (present) , Abnormality of the oral cavity (present) , Abnormality of the optic nerve (present) , Hypermetropia (present) , Myopia (present) , Abnormality of vision (present) , Abnormality of eye movement (present) , Vertigo (present) , Tinnitus (present) , Sensorineural hearing impairment (present) , Abnormality of movement (present) , Memory impairment (present) , Abnormality of coordination (present) , Cognitive impairment (present) , Anxiety (present) , Autistic behavior (present) , Hyperpigmentation of the skin (present) , Multiple cafe-au-lait spots (present) , Joint hypermobility (present) , Abnormality of the curvature of the vertebral column (present) , Abnormality of muscle physiology (present) , Hypercholesterolemia (present) , Hypertension (present) , Abnormality of cardiovascular system morphology (present) , Syncope (present) , Cardiomyopathy (present) , Abnormal EKG (present) , Arrhythmia (present) , Asthma (present) , Abnormality of the intestine (present) , Gastrointestinal dysmotility (present) , Abnormality of the liver (present) , Abnormality of the stomach (present) , Abnormality of esophagus morphology (present) , Feeding difficulties (present) , Abnormality of urine homeostasis (present) , Abnormal renal morphology (present) , Abnormality of the bladder (present) , Rheumatoid arthritis (present) , Recurrent infections (present) , Abnormal inflammatory response (present) , Autoimmunity (present) , Abnormality of leukocytes (present) , Abnormality of erythrocytes (present) , Bleeding with minor or no trauma (present) , Abnormality of blood and blood-forming tissues (present) (less)
Indication for testing: Diagnostic
Age: 40-49 years
Sex: female
Method: Sanger Sequencing
Testing laboratory: GeneDx
Date variant was reported to submitter: 2016-09-09
Testing laboratory interpretation: Pathogenic
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Germline Functional Evidence
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 germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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The genetic structure of the Turkish population reveals high levels of variation and admixture. | Kars ME | Proceedings of the National Academy of Sciences of the United States of America | 2021 | PMID: 34426522 |
Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing. | Fusaro M | The Journal of allergy and clinical immunology | 2021 | PMID: 32531373 |
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease. | Vergnano M | American journal of human genetics | 2020 | PMID: 32758448 |
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases. | Haskamp S | American journal of human genetics | 2020 | PMID: 32758447 |
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. | Hou YC | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 31980526 |
High-frequency actionable pathogenic exome variants in an average-risk cohort. | Rego S | Cold Spring Harbor molecular case studies | 2018 | PMID: 30487145 |
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. | Lhota F | Clinical genetics | 2016 | PMID: 26822949 |
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. | Dopazo J | Molecular biology and evolution | 2016 | PMID: 26764160 |
Genetic characterization of myeloperoxidase deficiency in Italy. | Marchetti C | Human mutation | 2004 | PMID: 15108282 |
Clinical manifestation of myeloperoxidase deficiency. | Lanza F | Journal of molecular medicine (Berlin, Germany) | 1998 | PMID: 9766845 |
Hereditary myeloperoxidase deficiency. | Kitahara M | Blood | 1981 | PMID: 6260268 |
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Text-mined citations for rs35897051 ...
HelpRecord last updated Nov 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.