NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs) AND Primary pulmonary hypertension

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 2, 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:: RCV001381429.8

Allele description [Variation Report for NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)]

NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)

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.2450_2451del (p.Asn817fs)

HGVS:

NC_000002.12:g.202556115_202556116del
NG_009363.1:g.184789_184790del
NM_001204.7:c.2450_2451delMANE SELECT
NP_001195.2:p.Asn817fs
LRG_712:g.184789_184790del
NC_000002.11:g.203420838_203420839del

Protein change:

N817fs

Links:

dbSNP: rs2105712248

NCBI 1000 Genomes Browser:

rs2105712248

Molecular consequence:

NM_001204.7:c.2450_2451del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Rattus norvegicus H2.0-like homeobox (Hlx), mRNA
Rattus norvegicus H2.0-like homeobox (Hlx), mRNA
gi|117940018|ref|NM_001077674.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001579812	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Nov 2, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 31727138, 16429395, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001579812

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Nov 2, 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

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Zhu N, Pauciulo MW, Welch CL, Lutz KA, Coleman AW, Gonzaga-Jauregui C, Wang J, Grimes JM, Martin LJ, He H; PAH Biobank Enrolling Centers’ Investigators., Shen Y, Chung WK, Nichols WC.

Genome Med. 2019 Nov 14;11(1):69. doi: 10.1186/s13073-019-0685-z. Erratum in: Genome Med. 2022 Feb 7;14(1):12. doi: 10.1186/s13073-022-01014-0.

PubMed [citation]

PMID:: 31727138
PMCID:: PMC6857288

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, SCV001579812.4

#	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. This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 31727138). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn817Ilefs*25) 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: Sep 29, 2024

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