NM_001204.7(BMPR2):c.621+428_967+3995del AND Pulmonary arterial hypertension

Germline classification:: Likely pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV001003882.1

Allele description [Variation Report for NM_001204.7(BMPR2):c.621+428_967+3995del]

NM_001204.7(BMPR2):c.621+428_967+3995del

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.621+428_967+3995del

HGVS:

NC_000002.12:g.202515407_202524196del
NG_009363.1:g.144081_152870del
NM_001204.7:c.621+428_967+3995delMANE SELECT
LRG_712:g.144081_152870del
NC_000002.11:g.203380130_203388919del

Molecular consequence:

NM_001204.7:c.621+428_967+3995del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001204.7:c.621+428_967+3995del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

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

Recent activity

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Nerita atramentosa isolate 07_23_07_T1 voucher AMS:C.269935.002 cytochrome c oxi...
Nerita atramentosa isolate 07_23_07_T1 voucher AMS:C.269935.002 cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrial
gi|2421824433|gb|OQ194189.1|

Nucleotide
Austrolittorina unifasciata strain RB1 cytochrome oxidase subunit I (COI) gene, ...
Austrolittorina unifasciata strain RB1 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial
gi|114053950|gb|DQ836997.1|

Nucleotide
lamin isoform K [Homo sapiens]
lamin isoform K [Homo sapiens]
gi|2244985384|ref|NP_001393922.1|

Protein
Chain B, CbiL
Chain B, CbiL
gi|2739589255|pdb|8XJ3|B

Protein
RecName: Full=Lysine-specific demethylase 4C; AltName: Full=Gene amplified in sq...
RecName: Full=Lysine-specific demethylase 4C; AltName: Full=Gene amplified in squamous cell carcinoma 1 protein; Short=GASC-1 protein; AltName: Full=JmjC domain-containing histone demethylation protein 3C; AltName: Full=Jumonji domain-containing protein 2C; AltName: Full=[histone H3]-trimethyl-L-lysine(9) demethylase 4C
gi|97536525|sp|Q9H3R0.2|KDM4C_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001162343	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001162343

NIHR Bioresource Rare Diseases, University of Cambridge

no assertion criteria provided

Likely pathogenic

unknown

research

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
not provided	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]

PMID:: 32581362
PMCID:: PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001162343.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

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

Last Updated: Aug 19, 2023

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