19-3779541-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_139355.3(MATK):c.919G>A(p.Val307Met) variant causes a missense change. The variant allele was found at a frequency of 0.00000993 in 1,611,506 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_139355.3 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: 0.0000263 AC: 4AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000367 AC: 9AN: 245458Hom.: 0 AF XY: 0.0000299 AC XY: 4AN XY: 133694
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459288Hom.: 0 Cov.: 34 AF XY: 0.00000551 AC XY: 4AN XY: 725876
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152218Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.922G>A (p.V308M) alteration is located in exon 10 (coding exon 9) of the MATK gene. This alteration results from a G to A substitution at nucleotide position 922, causing the valine (V) at amino acid position 308 to be replaced by a methionine (M). 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