NM_001204.7(BMPR2):c.1276+1G>A AND Pulmonary arterial hypertension associated with congenital heart disease

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 27, 2018
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:: RCV000664166.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.1276+1G>A]

NM_001204.7(BMPR2):c.1276+1G>A

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.1276+1G>A

HGVS:

NC_000002.12:g.202532733G>A
NG_009363.1:g.161407G>A
NM_001204.7:c.1276+1G>AMANE SELECT
LRG_712t1:c.1276+1G>A
LRG_712:g.161407G>A
NC_000002.11:g.203397456G>A
NM_001204.6:c.1276+1G>A

Links:

dbSNP: rs767070218

NCBI 1000 Genomes Browser:

rs767070218

Molecular consequence:

NM_001204.7:c.1276+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Pulmonary arterial hypertension associated with congenital heart disease
Identifiers:: MedGen: C3697119

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000784724	Wendy Chung Laboratory, Columbia University Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 27, 2018)	unknown	case-control	PubMed (2) [See all records that cite these PMIDs] 25741868, 30029678

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000784724

Wendy Chung Laboratory, Columbia University Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 27, 2018)

unknown

case-control

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	unknown	yes	1	1	not provided	not provided	not provided	case-control

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

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N, Welch CL, Wang J, Allen PM, Gonzaga-Jauregui C, Ma L, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Pauciulo MW, Lutz KA, Nichols WC, Reid JG, Overton JD, Baras A, Dewey FE, Shen Y, Chung WK.

Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x.

PubMed [citation]

PMID:: 30029678
PMCID:: PMC6054746

Details of each submission

From Wendy Chung Laboratory, Columbia University Medical Center, SCV000784724.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	case-control	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Feb 20, 2024

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