2-170391539-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138995.5(MYO3B):āc.1597A>Gā(p.Ile533Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000722 in 1,522,514 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_138995.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152064Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000525 AC: 1AN: 190488Hom.: 0 AF XY: 0.00000945 AC XY: 1AN XY: 105846
GnomAD4 exome AF: 0.00000511 AC: 7AN: 1370450Hom.: 0 Cov.: 26 AF XY: 0.00000586 AC XY: 4AN XY: 682968
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152064Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74264
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1597A>G (p.I533V) alteration is located in exon 15 (coding exon 15) of the MYO3B gene. This alteration results from a A to G substitution at nucleotide position 1597, causing the isoleucine (I) at amino acid position 533 to be replaced by a valine (V). 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