NM_001204.7(BMPR2):c.1097del (p.Pro366fs) AND Primary pulmonary hypertension

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 9, 2020
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:: RCV001386886.7

Allele description [Variation Report for NM_001204.7(BMPR2):c.1097del (p.Pro366fs)]

NM_001204.7(BMPR2):c.1097del (p.Pro366fs)

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.1097del (p.Pro366fs)

HGVS:

NC_000002.12:g.202530923del
NG_009363.1:g.159597del
NM_001204.7:c.1097delMANE SELECT
NP_001195.2:p.P366Qfs*9
NP_001195.2:p.Pro366fs
LRG_712t1:c.1097del
LRG_712:g.159597del
LRG_712p1:p.P366Qfs*9
NC_000002.11:g.203395644del
NC_000002.11:g.203395646del
NM_001204.6:c.1097delC

Protein change:

P366fs

Links:

dbSNP: rs1085307296

NCBI 1000 Genomes Browser:

rs1085307296

Molecular consequence:

NM_001204.7:c.1097del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001587284	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 9, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16429395, 19555857, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001587284

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 9, 2020)

germline

clinical testing

PubMed (3)
[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

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W, Eickelberg O, Olschewski H, Elliott CG, Glissmeyer E, Carlquist J, Kim M, Torbicki A, Fijalkowska A, Szewczyk G, Parma J, Abramowicz MJ, Galie N, et al.

Hum Mutat. 2006 Feb;27(2):121-32.

PubMed [citation]

PMID:: 16429395

Genetics and genomics of pulmonary arterial hypertension.

Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA 3rd, Soubrier F, Trembath RC, Chung WK.

J Am Coll Cardiol. 2009 Jun 30;54(1 Suppl):S32-S42. doi: 10.1016/j.jacc.2009.04.015. Review.

PubMed [citation]

PMID:: 19555857
PMCID:: PMC3725550

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001587284.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 19555857). This variant is also known as c.1095delC, p.R365fsX8 in the literature. ClinVar contains an entry for this variant (Variation ID: 425871). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro366Glnfs*9) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product.

#	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: Sep 29, 2024

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