2-170391549-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_138995.5(MYO3B):āc.1607A>Gā(p.Tyr536Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000783 in 1,405,210 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.: 31
GnomAD3 exomes AF: 0.00000952 AC: 2AN: 210060Hom.: 0 AF XY: 0.00000867 AC XY: 1AN XY: 115346
GnomAD4 exome AF: 0.00000783 AC: 11AN: 1405210Hom.: 0 Cov.: 27 AF XY: 0.00000857 AC XY: 6AN XY: 699914
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1607A>G (p.Y536C) 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 1607, causing the tyrosine (Y) at amino acid position 536 to be replaced by a cysteine (C). 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