View genomic variant #0000002833

Variant on transcripts

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Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Protein: Description of variant at protein level (following HGVS recommendations).

• p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
• p.Arg345Pro = change derived from RNA analysis
• p.? = unknown effect
• p.0? = probably no protein produced

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

• intergenic
• near-gene-5
• utr-5
• coding
• coding-near-splice
• coding-synonymous
• coding-synonymous-near-splice
• codingComplex
• codingComplex-near-splice
• frameshift
• frameshift-near-splice
• missense
• missense-near-splice
• splice-5
• intron
• splice-3
• stop-gained
• stop-gained-near-splice
• stop-lost
• stop-lost-near-splice
• utr-3
• near-gene-3

Position: Position of variant in coding DNA sequence; note that coding DNA position can also be derived from the variant description.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

PolyPhen: Effect of variant, predicted by PolyPhen.
All options:

• benign = Benign
• possiblyDamaging = Possibly damaging
• probablyDamaging = Probably damaging
• noPrediction = No prediction

RNA change: Description of variant at RNA level (following HGVS recommendations).

• r.123c>u
• r.? = unknown
• r.(?) = RNA not analysed but probably transcribed copy of DNA variant
• r.spl? = RNA not analysed but variant probably affects splicing
• r.(spl?) = RNA not analysed but variant may affect splicing
• r.0? = change expected to abolish transcription

SIFT: SIFT Annotation

1 entry on 1 page. Showing entry 1.

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Gene	Transcript ID	Transcript	Variant ID	Affects function	DNA change (cDNA)	Protein	GVS function	Position	Exon	PolyPhen	RNA change	SIFT
BMPR2	00003269	NM_001204.6	0000002833	+/+	c.2695C>T	p.(Arg899*)	stop_gained	-	12/13	-	r.(?)	-

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000009341; RCV000763065; RCV001003746; RCV001376577; RCV001810839; RCV001823864;
Chromosome	2:203421083..203421083
ClinVar Allele ID	23835
Disease database name and identifier	Human Phenotype Ontology:HP:0002092, Human Phenotype Ontology:HP:0006546, MONDO:MONDO:0015924, MeSH:D000081029, MedGen:C2973725, Orphanet:182090|MONDO:MONDO:0008347, MedGen:C5679820, Orphanet:422|MONDO:MONDO:0001999, MedGen:C0152171|MedGen:C3661900|MONDO:MONDO:0024533, MedGen:C4552070, OMIM:178600, Orphanet:422|MedGen:C3887658, OMIM:265450, Orphanet:31837
ClinVar preferred disease name	Pulmonary arterial hypertension|Idiopathic and/or familial pulmonary arterial hypertension|Primary pulmonary hypertension|not provided|Pulmonary hypertension, primary, 1|Pulmonary venoocclusive disease 1, autosomal dominant
HGVS variant names	NC 000002.11:g.203421083C>T
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Pathogenic
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA278069|OMIM:600799.0002
Gene symbol:Gene id.	BMPR2:659
Molecular consequence	SO:0001587|nonsense
Allele origin	germline
dbSNP ID	137852741
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None