chr16-66469802-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001136106.5(BEAN1):c.-102C>T variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000219 in 1,535,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001136106.5 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000197 AC: 30AN: 152008Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000181 AC: 25AN: 137830Hom.: 0 AF XY: 0.000147 AC XY: 11AN XY: 74744
GnomAD4 exome AF: 0.000221 AC: 306AN: 1383684Hom.: 0 Cov.: 32 AF XY: 0.000224 AC XY: 153AN XY: 682788
GnomAD4 genome AF: 0.000197 AC: 30AN: 152126Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at