2-74156572-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018221.5(MOB1A):c.647G>A(p.Arg216Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000058 in 1,550,890 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_018221.5 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: 0.0000197 AC: 3AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000625 AC: 1AN: 160050Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 84550
GnomAD4 exome AF: 0.00000286 AC: 4AN: 1398584Hom.: 0 Cov.: 29 AF XY: 0.00000290 AC XY: 2AN XY: 690098
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152306Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.647G>A (p.R216K) alteration is located in exon 6 (coding exon 6) of the MOB1A gene. This alteration results from a G to A substitution at nucleotide position 647, causing the arginine (R) at amino acid position 216 to be replaced by a lysine (K). 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