NM_001204.7(BMPR2):c.276A>C (p.Gln92His) AND Pulmonary hypertension, primary, 1

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 18, 2016
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:: RCV000488455.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.276A>C (p.Gln92His)]

NM_001204.7(BMPR2):c.276A>C (p.Gln92His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_001204.7(BMPR2):c.276A>C (p.Gln92His)

HGVS:

NC_000002.12:g.202467547A>C
NG_009363.1:g.96221A>C
NM_001204.7:c.276A>CMANE SELECT
NP_001195.2:p.Gln92His
LRG_712t1:c.276A>C
LRG_712:g.96221A>C
LRG_712p1:p.Q92H
NC_000002.11:g.203332270A>C
NM_001204.6:c.276A>C
NP_001195.2:p.Q92H

Protein change:

Q92H

Links:

dbSNP: rs140683387

NCBI 1000 Genomes Browser:

rs140683387

Molecular consequence:

NM_001204.7:c.276A>C - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000267228	Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 18, 2016)	germline	reference population	PubMed (2) [See all records that cite these PMIDs] 23675998, 25741868
SCV000576023	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] 23675998, 26387786

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000267228

Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 18, 2016)

germline

reference population

PubMed (2)
[See all records that cite these PMIDs]

SCV000576023

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
East Asian	germline	unknown	1	not provided	not provided	not provided	not provided	reference population

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension.

Kabata H, Satoh T, Kataoka M, Tamura Y, Ono T, Yamamoto M, Huqun, Hagiwara K, Fukuda K, Betsuyaku T, Asano K.

Respirology. 2013 Oct;18(7):1076-82. doi: 10.1111/resp.12117.

PubMed [citation]

PMID:: 23675998

See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center, SCV000267228.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asian	1	not provided	not provided	reference population	PubMed (2)

#	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		1	not provided	not provided	not provided

From Rare Disease Genomics Group, St George's University of London, SCV000576023.1

#	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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