2-170214765-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_138995.5(MYO3B):c.463C>T(p.Arg155Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000781 in 1,614,136 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138995.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152172Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000132 AC: 33AN: 249422Hom.: 0 AF XY: 0.000163 AC XY: 22AN XY: 135296
GnomAD4 exome AF: 0.0000828 AC: 121AN: 1461846Hom.: 1 Cov.: 31 AF XY: 0.0000880 AC XY: 64AN XY: 727220
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152290Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.463C>T (p.R155C) alteration is located in exon 5 (coding exon 5) of the MYO3B gene. This alteration results from a C to T substitution at nucleotide position 463, causing the arginine (R) at amino acid position 155 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