NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 21, 2014
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:: RCV000200009.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)]

NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)

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.846T>G (p.Tyr282Ter)

Other names:

p.Y282*:TAT>TAG

HGVS:

NC_000002.12:g.202519046T>G
NG_009363.1:g.147720T>G
NM_001204.7:c.846T>GMANE SELECT
NP_001195.2:p.Tyr282Ter
LRG_712t1:c.846T>G
LRG_712:g.147720T>G
NC_000002.11:g.203383769T>G
NM_001204.6:c.846T>G

Protein change:

Y282*

Links:

dbSNP: rs863223419

NCBI 1000 Genomes Browser:

rs863223419

Molecular consequence:

NM_001204.7:c.846T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000249641	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Nov 21, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000249641

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Nov 21, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000249641.11

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

Description

p.Tyr282Ter (TAT>TAG): c.846 T>G in exon 6 of the BMPR2 gene (NM_001204.6). The Y282X mutation in the BMPR2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Y282X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Many other nonsense mutations in the BMPR2 gene have been reported in association with PAH. In summary, Y282X in the BMPR2 gene is interpreted as a disease-causing mutation. This variant was found in PAH-ARRHYTHMIA

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

Last Updated: Jan 26, 2024

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