rs767555694
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_020998.4(MST1):āc.1604G>Cā(p.Arg535Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000683 in 1,609,532 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_020998.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152042Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000186 AC: 4AN: 215592Hom.: 0 AF XY: 0.0000171 AC XY: 2AN XY: 117284
GnomAD4 exome AF: 0.00000412 AC: 6AN: 1457490Hom.: 0 Cov.: 36 AF XY: 0.00000414 AC XY: 3AN XY: 724968
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152042Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74262
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at