5-16668420-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012334.3(MYO10):c.5932G>A(p.Asp1978Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,461,322 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar 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 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 248506Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134792
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461322Hom.: 1 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 726950
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5932G>A (p.D1978N) alteration is located in exon 40 (coding exon 40) of the MYO10 gene. This alteration results from a G to A substitution at nucleotide position 5932, causing the aspartic acid (D) at amino acid position 1978 to be replaced by an asparagine (N). 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