rs772817229
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_ModerateBP6_ModerateBP7
The NM_001204.7(BMPR2):c.1284C>G(p.Ser428=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,461,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. S428S) has been classified as Likely benign.
Frequency
Consequence
NM_001204.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BMPR2 | NM_001204.7 | c.1284C>G | p.Ser428= | synonymous_variant | 10/13 | ENST00000374580.10 | |
BMPR2 | XM_011511687.2 | c.1284C>G | p.Ser428= | synonymous_variant | 10/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BMPR2 | ENST00000374580.10 | c.1284C>G | p.Ser428= | synonymous_variant | 10/13 | 1 | NM_001204.7 | P1 | |
BMPR2 | ENST00000374574.2 | c.1284C>G | p.Ser428= | synonymous_variant | 10/12 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461676Hom.: 0 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727158
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Primary pulmonary hypertension Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 01, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at