NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) AND Pulmonary hypertension, primary, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 13, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000488825.6

Allele description [Variation Report for NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)]

NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)

HGVS:

NC_000002.12:g.202377522G>A
NG_009363.1:g.6196G>A
NM_001204.7:c.48G>AMANE SELECT
NP_001195.2:p.Trp16Ter
NP_001195.2:p.W16*
LRG_712t1:c.48G>A
LRG_712:g.6196G>A
LRG_712p1:p.W16*
NC_000002.11:g.203242245G>A
NM_001204.6:c.48G>A

Protein change:

W16*

Links:

dbSNP: rs1085307154

NCBI 1000 Genomes Browser:

rs1085307154

Molecular consequence:

NM_001204.7:c.48G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000575957	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 18356561, 21801371, 21737554, 26387786
SCV002556829	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 13, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000575957

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

no assertion criteria provided

Pathogenic

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

SCV002556829

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 13, 2022)

germline

clinical testing

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	clinical testing, literature only

Citations

PubMed

Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.

Sztrymf B, Coulet F, Girerd B, Yaici A, Jais X, Sitbon O, Montani D, Souza R, Simonneau G, Soubrier F, Humbert M.

Am J Respir Crit Care Med. 2008 Jun 15;177(12):1377-83. doi: 10.1164/rccm.200712-1807OC. Epub 2008 Mar 20.

PubMed [citation]

PMID:: 18356561

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N, Szamalek-Hoegel J, Fischer C, Hinderhofer K, Nagel C, Ehlken N, Tiede H, Olschewski H, Reichenberger F, Ghofrani AH, Seeger W, Grünig E.

Respir Res. 2011 Jul 29;12:99. doi: 10.1186/1465-9921-12-99.

PubMed [citation]

PMID:: 21801371
PMCID:: PMC3163544

See all PubMed Citations (5)

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000575957.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

#	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

From Genetics and Molecular Pathology, SA Pathology, SCV002556829.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Jun 29, 2024

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