NM_001204.7(BMPR2):c.2296A>G (p.Thr766Ala) AND Pulmonary hypertension, primary, 1

Germline classification:: Uncertain significance (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:: RCV000488778.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.2296A>G (p.Thr766Ala)]

NM_001204.7(BMPR2):c.2296A>G (p.Thr766Ala)

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.2296A>G (p.Thr766Ala)

HGVS:

NC_000002.12:g.202555961A>G
NG_009363.1:g.184635A>G
NM_001204.7:c.2296A>GMANE SELECT
NP_001195.2:p.Thr766Ala
LRG_712t1:c.2296A>G
LRG_712:g.184635A>G
NC_000002.11:g.203420684A>G
NM_001204.6:c.2296A>G

Protein change:

T766A

Links:

dbSNP: rs758990535

NCBI 1000 Genomes Browser:

rs758990535

Molecular consequence:

NM_001204.7:c.2296A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000576280	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 21737554, 26387786

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576280

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

no assertion criteria provided

Uncertain significance

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

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D, Liu QQ, Eyries M, Wu WH, Yuan P, Zhang R, Soubrier F, Jing ZC.

Eur Respir J. 2012 Mar;39(3):597-603. doi: 10.1183/09031936.00072911. Epub 2011 Jul 7.

PubMed [citation]

PMID:: 21737554

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 Rare Disease Genomics Group, St George's University of London, SCV000576280.1

#	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: Feb 20, 2024

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