rs200938488
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_StrongBS1
The NM_212552.3(BOLA3):āc.282G>Cā(p.Glu94Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000806 in 1,613,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. E94E) has been classified as Likely benign.
Frequency
Consequence
NM_212552.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BOLA3 | NM_212552.3 | c.282G>C | p.Glu94Asp | missense_variant | Exon 4 of 4 | ENST00000327428.10 | NP_997717.2 | |
BOLA3 | NM_001035505.2 | c.193G>C | p.Asp65His | missense_variant | Exon 3 of 3 | NP_001030582.1 | ||
TET3 | XM_024452745.2 | c.*392C>G | downstream_gene_variant | XP_024308513.1 | ||||
TET3 | XM_024452746.2 | c.*392C>G | downstream_gene_variant | XP_024308514.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152152Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251416Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135884
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461586Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 727126
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152270Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74444
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at