2-170335390-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138995.5(MYO3B):c.755C>T(p.Pro252Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000379 in 1,607,894 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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: 0.0000526 AC: 8AN: 152068Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000103 AC: 25AN: 243234Hom.: 0 AF XY: 0.0000911 AC XY: 12AN XY: 131726
GnomAD4 exome AF: 0.0000364 AC: 53AN: 1455708Hom.: 0 Cov.: 29 AF XY: 0.0000415 AC XY: 30AN XY: 723638
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.755C>T (p.P252L) alteration is located in exon 8 (coding exon 8) of the MYO3B gene. This alteration results from a C to T substitution at nucleotide position 755, causing the proline (P) at amino acid position 252 to be replaced by a leucine (L). 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