NM_001204.7(BMPR2):c.1141dup (p.Arg381fs) AND Primary pulmonary hypertension

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 23, 2021
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:: RCV001388597.7

Allele description [Variation Report for NM_001204.7(BMPR2):c.1141dup (p.Arg381fs)]

NM_001204.7(BMPR2):c.1141dup (p.Arg381fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2q33.2

Genomic location:

Preferred name:

NM_001204.7(BMPR2):c.1141dup (p.Arg381fs)

HGVS:

NC_000002.12:g.202532597dup
NG_009363.1:g.161271dup
NM_001204.7:c.1141dupMANE SELECT
NP_001195.2:p.Arg381fs
LRG_712t1:c.1141dup
LRG_712:g.161271dup
LRG_712p1:p.R381Kfs*18
NC_000002.11:g.203397319_203397320insA
NC_000002.11:g.203397320dup
NM_001204.6:c.1141dupA
NP_001195.2:p.R381Kfs*18

Protein change:

R381fs

Links:

dbSNP: rs1085307303

NCBI 1000 Genomes Browser:

rs1085307303

Molecular consequence:

NM_001204.7:c.1141dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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MROH8 maestro heat like repeat family member 8 [Homo sapiens]
MROH8 maestro heat like repeat family member 8 [Homo sapiens]
Gene ID:140699

Gene
Gene Links for GEO Profiles (Select 132571175) (1)
Gene
Chromosome neighbors for GEO Profiles (Select 132546160) (20)
GEO Profiles
OMIM Links for GEO Profiles (Select 1015212) (2)
OMIM

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001589651	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 23, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19206171, 16429395, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001589651

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 23, 2021)

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

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.

Hamid R, Cogan JD, Hedges LK, Austin E, Phillips JA 3rd, Newman JH, Loyd JE.

Hum Mutat. 2009 Apr;30(4):649-54. doi: 10.1002/humu.20922.

PubMed [citation]

PMID:: 19206171
PMCID:: PMC2663001

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

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001589651.4

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

Description

This sequence change creates a premature translational stop signal (p.Arg381Lysfs*18) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 19206171). ClinVar contains an entry for this variant (Variation ID: 425880). Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395). For these reasons, this variant has been classified as Pathogenic.

#	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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