NM_033030.6:c.136G>A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_033030.6(BOLL):c.136G>A(p.Glu46Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000255 in 1,606,288 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033030.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151886Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000202 AC: 5AN: 247950Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134170
GnomAD4 exome AF: 0.0000268 AC: 39AN: 1454402Hom.: 1 Cov.: 29 AF XY: 0.0000235 AC XY: 17AN XY: 723774
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151886Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74206
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.172G>A (p.E58K) alteration is located in exon 3 (coding exon 3) of the BOLL gene. This alteration results from a G to A substitution at nucleotide position 172, causing the glutamic acid (E) at amino acid position 58 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at