2-170383722-T-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_138995.5(MYO3B):āc.1198T>Cā(p.Tyr400His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,461,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249174Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135158
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461106Hom.: 0 Cov.: 29 AF XY: 0.0000206 AC XY: 15AN XY: 726902
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1198T>C (p.Y400H) alteration is located in exon 12 (coding exon 12) of the MYO3B gene. This alteration results from a T to C substitution at nucleotide position 1198, causing the tyrosine (Y) at amino acid position 400 to be replaced by a histidine (H). 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