NG_009363.1:g.(161407_170984)_(171122_181389)del AND Pulmonary hypertension, primary, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2006
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:: RCV000009365.3

Allele description [Variation Report for NG_009363.1:g.(161407_170984)_(171122_181389)del]

NG_009363.1:g.(161407_170984)_(171122_181389)del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2q33

Preferred name:

NG_009363.1:g.(161407_170984)_(171122_181389)del

HGVS:

NC_000002.12:g.(202532733_202542310)_(202542448_202552715)del
NG_009363.1:g.(161407_170984)_(171122_181389)del
LRG_712:g.(161407_170984)_(171122_181389)del

Nucleotide change:

EX10DEL

Links:

OMIM: 600799.0024

Condition(s)

Name:: Pulmonary hypertension, primary, 1
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
SCV000029583	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2006)	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

SCV000029583

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2006)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.

Aldred MA, Vijayakrishnan J, James V, Soubrier F, Gomez-Sanchez MA, Martensson G, Galie N, Manes A, Corris P, Simonneau G, Humbert M, Morrell NW, Trembath RC.

Hum Mutat. 2006 Feb;27(2):212-3.

PubMed [citation]

PMID:: 16429403

Details of each submission

From OMIM, SCV000029583.2

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

Description

In 2 sibs and an unrelated pediatric patient with primary pulmonary hypertension (PPH1; 178600), Aldred et al. (2006) identified heterozygosity for deletion of exon 10 of the BMPR2 gene, resulting in loss of 45 amino acids from the kinase domain. The deletion was predicted to cause a frameshift and premature termination of exon 11 that was expected to result in nonsense-mediated decay (NMD). The sibs inherited the mutation from their unaffected father; in the other case, the mutation was inherited from the unaffected mother.

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

Last Updated: Jan 7, 2023

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