NM_001204.7(BMPR2):c.967+4del AND Pulmonary hypertension, primary, 1

Germline classification:: Pathogenic (1 submission)
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:: RCV000488807.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.967+4del]

NM_001204.7(BMPR2):c.967+4del

Gene:

BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2q33.2

Genomic location:

Preferred name:

NM_001204.7(BMPR2):c.967+4del

HGVS:

NC_000002.12:g.202520205del
NG_009363.1:g.148879del
NM_001204.7:c.967+4delMANE SELECT
NP_001195.2:p.G285Ifs*12
LRG_712t1:c.967+4del
LRG_712:g.148879del
LRG_712p1:p.G285Ifs*12
NC_000002.11:g.203384928del
NM_001204.6:c.967+4delA

Links:

dbSNP: rs1085307278

NCBI 1000 Genomes Browser:

rs1085307278

Molecular consequence:

NM_001204.7:c.967+4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Pulmonary hypertension, primary, 1 (PPH1)
Identifiers:: MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576137	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576137

Rare Disease Genomics Group, St George's University of London

no assertion criteria provided

Pathogenic

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, Phillips JA 3rd, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G, Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd JE, Trembath RC, et al.

Am J Hum Genet. 2001 Jan;68(1):92-102. Epub 2000 Dec 12.

PubMed [citation]

PMID:: 11115378
PMCID:: PMC1234937

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576137.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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