rs111428432
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The ENST00000616003.5(MID1):āc.880G>Cā(p.Glu294Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000347 in 1,153,667 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 8/9 in silico tools predict 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. E294K) has been classified as Likely benign.
Frequency
Consequence
ENST00000616003.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MID1 | NM_000381.4 | c.757-5745G>C | intron_variant | ENST00000317552.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MID1 | ENST00000317552.9 | c.757-5745G>C | intron_variant | 1 | NM_000381.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000896 AC: 1AN: 111610Hom.: 0 Cov.: 23 AF XY: 0.0000296 AC XY: 1AN XY: 33768
GnomAD3 exomes AF: 0.0000307 AC: 3AN: 97874Hom.: 0 AF XY: 0.0000273 AC XY: 1AN XY: 36568
GnomAD4 exome AF: 0.00000288 AC: 3AN: 1042057Hom.: 0 Cov.: 29 AF XY: 0.00000293 AC XY: 1AN XY: 341093
GnomAD4 genome ? AF: 0.00000896 AC: 1AN: 111610Hom.: 0 Cov.: 23 AF XY: 0.0000296 AC XY: 1AN XY: 33768
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at