rs185737637
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001190787.3(MCIDAS):āc.856G>Cā(p.Glu286Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000326 in 1,535,982 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. E286K) has been classified as Likely benign.
Frequency
Consequence
NM_001190787.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MCIDAS | NM_001190787.3 | c.856G>C | p.Glu286Gln | missense_variant | 7/7 | ENST00000513312.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MCIDAS | ENST00000513312.3 | c.856G>C | p.Glu286Gln | missense_variant | 7/7 | 1 | NM_001190787.3 | P1 | |
MCIDAS | ENST00000513468.5 | c.*320G>C | 3_prime_UTR_variant, NMD_transcript_variant | 7/7 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152226Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000149 AC: 2AN: 134582Hom.: 0 AF XY: 0.0000136 AC XY: 1AN XY: 73304
GnomAD4 exome AF: 0.00000289 AC: 4AN: 1383756Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 682822
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152226Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at