NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter) 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:: RCV002306252.1

Allele description [Variation Report for NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter)]

NM_001204.7(BMPR2):c.2336C>G (p.Ser779Ter)

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.2336C>G (p.Ser779Ter)

HGVS:

NC_000002.12:g.202556001C>G
NG_009363.1:g.184675C>G
NM_001204.7:c.2336C>GMANE SELECT
NP_001195.2:p.Ser779Ter
NP_001195.2:p.Ser779Ter
LRG_712t1:c.2336C>G
LRG_712:g.184675C>G
LRG_712p1:p.Ser779Ter
NC_000002.11:g.203420724C>G
NM_001204.6:c.2336C>G

Protein change:

S779*

Molecular consequence:

NM_001204.7:c.2336C>G - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002600105	Institute of Human Genetics, University of Wuerzburg	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002600105

Institute of Human Genetics, University of Wuerzburg

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

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	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV002600105.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	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	not provided	not provided

Last Updated: Aug 19, 2023

ClinVar

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