14-22947211-T-C
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_001166269.2(HAUS4):c.868A>G(p.Thr290Ala) 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 1,457,764 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. T290S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001166269.2 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HAUS4 | NM_001166269.2 | c.868A>G | p.Thr290Ala | missense_variant | Exon 9 of 10 | ENST00000541587.6 | NP_001159741.1 | |
HAUS4 | NM_017815.3 | c.868A>G | p.Thr290Ala | missense_variant | Exon 9 of 10 | NP_060285.2 | ||
HAUS4 | NM_001166270.2 | c.733A>G | p.Thr245Ala | missense_variant | Exon 8 of 9 | NP_001159742.1 | ||
PRMT5-DT | NR_110002.1 | n.195-7120T>C | intron_variant | Intron 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HAUS4 | ENST00000541587.6 | c.868A>G | p.Thr290Ala | missense_variant | Exon 9 of 10 | 1 | NM_001166269.2 | ENSP00000441026.1 | ||
ENSG00000259132 | ENST00000555074.1 | c.355A>G | p.Thr119Ala | missense_variant | Exon 4 of 5 | 2 | ENSP00000450856.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD2 exomes AF: 0.00000398 AC: 1AN: 251400 AF XY: 0.00000736 show subpopulations
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457764Hom.: 0 Cov.: 28 AF XY: 0.00000138 AC XY: 1AN XY: 725536 show subpopulations
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at