NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) AND Primary pulmonary hypertension

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 30, 2023
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:: RCV002230968.4

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:: Primary pulmonary hypertension (PPH1)
Identifiers:: MONDO: MONDO:0001999; MedGen: C0152171

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000629980	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 30, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18356561, 21801371, 26387786, 16429395, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000629980

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 30, 2023)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV000629980.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 425685). This premature translational stop signal has been observed in individual(s) with pulmonary arterial hypertension (PMID: 18356561, 21801371, 26387786). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp16*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395).

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

Last Updated: Oct 26, 2024

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