NM_012334.3:c.5645C>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012334.3(MYO10):c.5645C>T(p.Thr1882Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,614,008 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. T1882K) has been classified as Uncertain significance.
Frequency
Consequence
NM_012334.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249154Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135158
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461710Hom.: 0 Cov.: 35 AF XY: 0.00000825 AC XY: 6AN XY: 727138
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152298Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74462
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at