chr14-22981279-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032876.6(AJUBA):c.988G>A(p.Ala330Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,457,956 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 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. A330P) has been classified as Uncertain significance.
Frequency
Consequence
NM_032876.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AJUBA | ENST00000262713.7 | c.988G>A | p.Ala330Thr | missense_variant | Exon 1 of 8 | 1 | NM_032876.6 | ENSP00000262713.2 | ||
ENSG00000259132 | ENST00000555074.1 | c.49+930G>A | intron_variant | Intron 1 of 4 | 2 | ENSP00000450856.2 | ||||
AJUBA | ENST00000553736.1 | c.307G>A | p.Ala103Thr | missense_variant | Exon 1 of 2 | 2 | ENSP00000451772.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457956Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 724672
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.