14-22973482-C-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_032876.6(AJUBA):c.1578G>T(p.Gln526His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000886 in 1,613,934 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032876.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AJUBA | ENST00000262713.7 | c.1578G>T | p.Gln526His | missense_variant | Exon 8 of 8 | 1 | NM_032876.6 | ENSP00000262713.2 | ||
ENSG00000259132 | ENST00000555074.1 | c.49+8727G>T | intron_variant | Intron 1 of 4 | 2 | ENSP00000450856.2 | ||||
AJUBA | ENST00000397388.7 | c.327G>T | p.Gln109His | missense_variant | Exon 6 of 6 | 2 | ENSP00000380543.3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152210Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000204 AC: 51AN: 250452Hom.: 0 AF XY: 0.000295 AC XY: 40AN XY: 135404
GnomAD4 exome AF: 0.0000951 AC: 139AN: 1461606Hom.: 1 Cov.: 31 AF XY: 0.000131 AC XY: 95AN XY: 727076
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152328Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1578G>T (p.Q526H) alteration is located in exon 8 (coding exon 8) of the AJUBA gene. This alteration results from a G to T substitution at nucleotide position 1578, causing the glutamine (Q) at amino acid position 526 to be replaced by a histidine (H). 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