NM_001204.7(BMPR2):c.2124C>G (p.Tyr708Ter) AND Pulmonary hypertension, primary, 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000488649.1

Allele description

NM_001204.7(BMPR2):c.2124C>G (p.Tyr708Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.2

Genomic location:

Preferred name:

NM_001204.7(BMPR2):c.2124C>G (p.Tyr708Ter)

HGVS:

NC_000002.12:g.202555789C>G
NG_009363.1:g.184463C>G
NM_001204.7:c.2124C>GMANE SELECT
NP_001195.2:p.Tyr708Ter
NP_001195.2:p.Y708*
LRG_712t1:c.2124C>G
LRG_712:g.184463C>G
LRG_712p1:p.Y708*
NC_000002.11:g.203420512C>G
NM_001204.6:c.2124C>G

Protein change:

Y708*

Links:

dbSNP: rs1085307374

NCBI 1000 Genomes Browser:

rs1085307374

Molecular consequence:

NM_001204.7:c.2124C>G - 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
SCV000576276	Medical & Molecular Genetics Group, University of Lincoln	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15146475, 26387786

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576276

Medical & Molecular Genetics Group, University of Lincoln

no assertion criteria provided

Pathogenic

germline

literature only

PubMed (2)
[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	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Morisaki H, Nakanishi N, Kyotani S, Takashima A, Tomoike H, Morisaki T.

Hum Mutat. 2004 Jun;23(6):632. Erratum in: Hum Mutat. 2004 Sep;24(3):275.

PubMed [citation]

PMID:: 15146475

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E.

Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Review.

PubMed [citation]

PMID:: 26387786
PMCID:: PMC4822159

Details of each submission

From Medical & Molecular Genetics Group, University of Lincoln, SCV000576276.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	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: May 27, 2022

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