2-170382071-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138995.5(MYO3B):c.1027T>A(p.Cys343Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000204 in 1,613,726 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138995.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152258Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000642 AC: 16AN: 249324Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135272
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461350Hom.: 0 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 726942
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152376Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74520
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1027T>A (p.C343S) alteration is located in exon 10 (coding exon 10) of the MYO3B gene. This alteration results from a T to A substitution at nucleotide position 1027, causing the cysteine (C) at amino acid position 343 to be replaced by a serine (S). 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