9-126392147-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033446.3(MVB12B):c.491G>A(p.Arg164Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000141 in 1,614,046 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_033446.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MVB12B | NM_033446.3 | c.491G>A | p.Arg164Gln | missense_variant | Exon 5 of 10 | ENST00000361171.8 | NP_258257.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MVB12B | ENST00000361171.8 | c.491G>A | p.Arg164Gln | missense_variant | Exon 5 of 10 | 2 | NM_033446.3 | ENSP00000354772.3 | ||
MVB12B | ENST00000489637.3 | c.491G>A | p.Arg164Gln | missense_variant | Exon 5 of 6 | 1 | ENSP00000485994.1 | |||
MVB12B | ENST00000402437.2 | c.446G>A | p.Arg149Gln | missense_variant | Exon 5 of 6 | 3 | ENSP00000384751.2 |
Frequencies
GnomAD3 genomes AF: 0.000151 AC: 23AN: 152156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000159 AC: 40AN: 251494Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135920
GnomAD4 exome AF: 0.000140 AC: 205AN: 1461890Hom.: 0 Cov.: 31 AF XY: 0.000153 AC XY: 111AN XY: 727248
GnomAD4 genome AF: 0.000151 AC: 23AN: 152156Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.491G>A (p.R164Q) alteration is located in exon 5 (coding exon 5) of the MVB12B gene. This alteration results from a G to A substitution at nucleotide position 491, causing the arginine (R) at amino acid position 164 to be replaced by a glutamine (Q). 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