rs1085307195
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PP2PP3_StrongPP5
The NM_001204.7(BMPR2):c.248G>A(p.Gly83Glu) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 14/23 in silico tools predict a damaging outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_001204.7 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BMPR2 | NM_001204.7 | c.248G>A | p.Gly83Glu | missense_variant, splice_region_variant | 3/13 | ENST00000374580.10 | NP_001195.2 | |
BMPR2 | XM_011511687.2 | c.248G>A | p.Gly83Glu | missense_variant, splice_region_variant | 3/13 | XP_011509989.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BMPR2 | ENST00000374580.10 | c.248G>A | p.Gly83Glu | missense_variant, splice_region_variant | 3/13 | 1 | NM_001204.7 | ENSP00000363708.4 | ||
BMPR2 | ENST00000374574.2 | c.248G>A | p.Gly83Glu | missense_variant, splice_region_variant | 3/12 | 2 | ENSP00000363702.2 | |||
BMPR2 | ENST00000479069.1 | n.155G>A | splice_region_variant, non_coding_transcript_exon_variant | 2/3 | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Pulmonary hypertension, primary, 1 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | Rare Disease Genomics Group, St George's University of London | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at