NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) AND Pulmonary hypertension, primary, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 11, 2016
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:: RCV000246386.3

Allele description [Variation Report for NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val)]

NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val)

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.1469C>T (p.Ala490Val)

HGVS:

NC_000002.12:g.202552771C>T
NG_009363.1:g.181445C>T
NM_001204.7:c.1469C>TMANE SELECT
NP_001195.2:p.Ala490Val
LRG_712t1:c.1469C>T
LRG_712:g.181445C>T
LRG_712p1:p.A490V
NC_000002.11:g.203417494C>T
NM_001204.6:c.1469C>T
NP_001195.2:p.A490V

Protein change:

A490V

Links:

dbSNP: rs886039222

NCBI 1000 Genomes Browser:

rs886039222

Molecular consequence:

NM_001204.7:c.1469C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pulmonary hypertension, primary, 1 (PPH1)
Identifiers:: MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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gi|33418674|gnl|dbEST|19431726|gb|C 66.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320706	Center for Genomic Medicine, Kyoto University Graduate School of Medicine	no assertion criteria provided	Pathogenic (Jul 11, 2016)	germline	clinical testing
SCV000576248	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 16429395, 16717148

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000320706

Center for Genomic Medicine, Kyoto University Graduate School of Medicine

no assertion criteria provided

Pathogenic
(Jul 11, 2016)

germline

clinical testing

SCV000576248

Rare Disease Genomics Group, St George's University of London

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	clinical testing, literature only

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

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

Elliott CG, Glissmeyer EW, Havlena GT, Carlquist J, McKinney JT, Rich S, McGoon MD, Scholand MB, Kim M, Jensen RL, Schmidt JW, Ward K.

Circulation. 2006 May 30;113(21):2509-15. Epub 2006 May 22.

PubMed [citation]

PMID:: 16717148

Details of each submission

From Center for Genomic Medicine, Kyoto University Graduate School of Medicine, SCV000320706.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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

From Rare Disease Genomics Group, St George's University of London, SCV000576248.1

#	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: Sep 29, 2024

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