2-170369229-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_138995.5(MYO3B):āc.823A>Gā(p.Ile275Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00195 in 1,612,852 control chromosomes in the GnomAD database, including 51 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_138995.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00996 AC: 1515AN: 152124Hom.: 21 Cov.: 33
GnomAD3 exomes AF: 0.00238 AC: 593AN: 248922Hom.: 4 AF XY: 0.00167 AC XY: 225AN XY: 135032
GnomAD4 exome AF: 0.00111 AC: 1619AN: 1460610Hom.: 30 Cov.: 30 AF XY: 0.000907 AC XY: 659AN XY: 726538
GnomAD4 genome AF: 0.00997 AC: 1518AN: 152242Hom.: 21 Cov.: 33 AF XY: 0.00931 AC XY: 693AN XY: 74422
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at