NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile) AND Pulmonary hypertension, primary, 1

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 27, 2017
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:: RCV000359111.9

Allele description [Variation Report for NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)]

NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)

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.1042G>A (p.Val348Ile)

Other names:

p.Val348Ile; NM_001204.7(BMPR2):c.1042G>A

HGVS:

NC_000002.12:g.202530868G>A
NG_009363.1:g.159542G>A
NM_001204.7:c.1042G>AMANE SELECT
NP_001195.2:p.Val348Ile
LRG_712t1:c.1042G>A
LRG_712:g.159542G>A
LRG_712p1:p.V348I
NC_000002.11:g.203395591G>A
NM_001204.6:c.1042G>A
NP_001195.2:p.V348I

Protein change:

V348I

Links:

dbSNP: rs201067849

NCBI 1000 Genomes Browser:

rs201067849

Molecular consequence:

NM_001204.7:c.1042G>A - 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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LOC109904267 [Oncorhynchus kisutch]
LOC109904267 [Oncorhynchus kisutch]
Gene ID:109904267

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000426388	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20002458, 19555857 Citation Link,
SCV000576157	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Uncertain significance	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 19555857, 20002458, 21737554, 26387786

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000426388

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link,

SCV000576157

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

no assertion criteria provided

Uncertain significance

germline

literature only

PubMed (4)
[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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetics and genomics of pulmonary arterial hypertension.

Machado RD, Eickelberg O, Elliott CG, Geraci MW, Hanaoka M, Loyd JE, Newman JH, Phillips JA 3rd, Soubrier F, Trembath RC, Chung WK.

J Am Coll Cardiol. 2009 Jun 30;54(1 Suppl):S32-S42. doi: 10.1016/j.jacc.2009.04.015. Review.

PubMed [citation]

PMID:: 19555857
PMCID:: PMC3725550

Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.

Wang H, Cui QQ, Sun K, Song L, Zou YB, Wang XJ, Jia L, Liu X, Gao S, Zhang CN, Hui RT.

Clin Genet. 2010 Feb;77(2):189-92. doi: 10.1111/j.1399-0004.2009.01335.x. Epub 2009 Dec 10. No abstract available.

PubMed [citation]

PMID:: 20002458

See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000426388.3

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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

From Rare Disease Genomics Group, St George's University of London, SCV000576157.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

#	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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