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NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs) 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:
RCV001823941.3

Allele description [Variation Report for NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)]

NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)

Gene:
BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q33.2
Genomic location:
Preferred name:
NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs)
HGVS:
  • NC_000002.12:g.202556115_202556116del
  • NG_009363.1:g.184789_184790del
  • NM_001204.7:c.2450_2451delMANE SELECT
  • NP_001195.2:p.Asn817fs
  • LRG_712:g.184789_184790del
  • NC_000002.11:g.203420838_203420839del
Protein change:
N817fs
Links:
dbSNP: rs2105712248
NCBI 1000 Genomes Browser:
rs2105712248
Molecular consequence:
  • NM_001204.7:c.2450_2451del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002073554Wendy Chung Laboratory, Columbia University Medical Center
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature 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, SCV002073554.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024