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NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer) 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:
RCV000664167.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)]

NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)

Gene:
BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2q33.2
Genomic location:
Preferred name:
NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)
HGVS:
  • NC_000002.12:g.202532727_202542311delinsAGA
  • NG_009363.1:g.161401_170985delinsAGA
  • NM_001204.7:c.1271_1277delinsAGAMANE SELECT
  • NP_001195.2:p.Phe424_Gly426delinsTer
  • LRG_712:g.161401_170985delinsAGA
  • NC_000002.11:g.203397450_203407034del9585insAGA
  • NC_000002.11:g.203397450_203407034delinsAGA
Molecular consequence:
  • NM_001204.7:c.1271_1277delinsAGA - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001204.7:c.1271_1277delinsAGA - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001204.7:c.1271_1277delinsAGA - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000784725Wendy Chung Laboratory, Columbia University Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 27, 2018) 		unknowncase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedcase-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, SCV000784725.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcase-control PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022