chr4-95104515-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP5
The NM_001203.3(BMPR1B):c.91C>T(p.Arg31Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,332 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R31H) has been classified as Likely benign.
Frequency
Consequence
NM_001203.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BMPR1B | NM_001203.3 | c.91C>T | p.Arg31Cys | missense_variant | 4/13 | ENST00000515059.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BMPR1B | ENST00000515059.6 | c.91C>T | p.Arg31Cys | missense_variant | 4/13 | 1 | NM_001203.3 | P4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251048Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135676
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461332Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726990
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Acromesomelic dysplasia 3 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jun 24, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at