1-1615470-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The XM_047446594.1(MIB2):c.11C>T(p.Ala4Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000265 in 1,508,410 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
XM_047446594.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MIB2 | NM_001170687.4 | c.-293C>T | upstream_gene_variant | ENST00000355826.10 | NP_001164158.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151966Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000192 AC: 2AN: 104110Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 56804
GnomAD4 exome AF: 0.00000221 AC: 3AN: 1356444Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 667702
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151966Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74220
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at