NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg) AND multiple conditions

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV001823930.10

Allele description [Variation Report for NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg)]

NM_001204.7(BMPR2):c.529G>A (p.Gly177Arg)

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.529G>A (p.Gly177Arg)

HGVS:

NC_000002.12:g.202513829G>A
NG_009363.1:g.142503G>A
NM_001204.7:c.529G>AMANE SELECT
NP_001195.2:p.Gly177Arg
LRG_712:g.142503G>A
NC_000002.11:g.203378552G>A

Protein change:

G177R

Links:

dbSNP: rs1574486033

NCBI 1000 Genomes Browser:

rs1574486033

Molecular consequence:

NM_001204.7:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pulmonary arterial hypertension
Identifiers:: MONDO: MONDO:0015924; MeSH: D000081029; MedGen: C2973725; Orphanet: 182090; Human Phenotype Ontology: HP:0002092

Name:: Idiopathic and/or familial pulmonary arterial hypertension
Identifiers:: MedGen: C5679820; Orphanet: 422

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002073590	Wendy Chung Laboratory, Columbia University Medical Center	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002073590

Wendy Chung Laboratory, Columbia University Medical Center

no classification provided

not provided

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
EUR	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Zhu N, Pauciulo MW, Welch CL, Lutz KA, Coleman AW, Gonzaga-Jauregui C, Wang J, Grimes JM, Martin LJ, He H; PAH Biobank Enrolling Centers’ Investigators., Shen Y, Chung WK, Nichols WC.

Genome Med. 2019 Nov 14;11(1):69. doi: 10.1186/s13073-019-0685-z. Erratum in: Genome Med. 2022 Feb 7;14(1):12. doi: 10.1186/s13073-022-01014-0.

PubMed [citation]

PMID:: 31727138
PMCID:: PMC6857288

Details of each submission

From Wendy Chung Laboratory, Columbia University Medical Center, SCV002073590.1

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

#	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: Nov 3, 2024

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