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NM_001204.6(BMPR2):c.622-?_852+?del

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 25, 2015)
Accession:
VCV000425808.1
Variation ID:
425808
Description:
deletion
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NM_001204.6(BMPR2):c.622-?_852+?del

Allele ID
414060
Variant type
Deletion
Variant length
-
Cytogenetic location
-
Genomic location
-
HGVS
Nucleotide Protein Molecular
consequence
LRG_712t1:c.622-?_852+?del
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
Comment on variant
The genomic location for this variant will not be computed from alignment of the transcript sequence to the genome until there is experimental evidence for the genomic basis of the loss of exons from the cDNA.
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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 - RCV000488459.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BMPR2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
569 589

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: literature only
Primary pulmonary hypertension
Allele origin: germline
Medical & Molecular Genetics Group,University of Lincoln
Accession: SCV000576089.1
Submitted: (Aug 25, 2015)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. Machado RD Human mutation 2015 PMID: 26387786
Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. Girerd B Respiratory research 2010 PMID: 20534176

Record last updated Oct 27, 2019