Submissions for variant NM_001204.7(BMPR2):c.-669G>A

gnomAD frequency: 0.00624  dbSNP: rs115604088

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000383967	SCV000426374	likely benign	Pulmonary hypertension, primary, 1	2017-04-27	criteria provided, single submitter	clinical testing	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.
Invitae	RCV001516961	SCV001725339	benign	Primary pulmonary hypertension	2023-04-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812872	SCV002050011	benign	not provided	2023-06-28	criteria provided, single submitter	clinical testing
Mendelics	RCV002248619	SCV002518157	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502289	SCV002797234	benign	Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1	2022-04-14	criteria provided, single submitter	clinical testing
Rare Disease Genomics Group, St George's University of London	RCV001516961	SCV000575939	benign	Primary pulmonary hypertension	2024-02-07	no assertion criteria provided	literature only	The NM_001204.7(BMPR2):c.-669G>A variant has an allele frequency of >2% in the European (Finnish) population and has been observed in the homozygous state (n=24) in the gnomAD database (v.4.0.0). Therefore, this variant meets our criteria to be classified as benign, based on allele frequency data.