14-22947180-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001166269.2(HAUS4):c.899G>A(p.Arg300His) variant causes a missense change. The variant allele was found at a frequency of 0.0000107 in 1,592,262 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_001166269.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HAUS4 | NM_001166269.2 | c.899G>A | p.Arg300His | missense_variant | Exon 9 of 10 | ENST00000541587.6 | NP_001159741.1 | |
HAUS4 | NM_017815.3 | c.899G>A | p.Arg300His | missense_variant | Exon 9 of 10 | NP_060285.2 | ||
HAUS4 | NM_001166270.2 | c.764G>A | p.Arg255His | missense_variant | Exon 8 of 9 | NP_001159742.1 | ||
PRMT5-DT | NR_110002.1 | n.195-7151C>T | intron_variant | Intron 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HAUS4 | ENST00000541587.6 | c.899G>A | p.Arg300His | missense_variant | Exon 9 of 10 | 1 | NM_001166269.2 | ENSP00000441026.1 | ||
ENSG00000259132 | ENST00000555074.1 | c.386G>A | p.Arg129His | missense_variant | Exon 4 of 5 | 2 | ENSP00000450856.2 |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151618Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251396Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135894
GnomAD4 exome AF: 0.00000902 AC: 13AN: 1440644Hom.: 0 Cov.: 28 AF XY: 0.00000696 AC XY: 5AN XY: 718258
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151618Hom.: 0 Cov.: 31 AF XY: 0.0000405 AC XY: 3AN XY: 74010
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.899G>A (p.R300H) alteration is located in exon 9 (coding exon 8) of the HAUS4 gene. This alteration results from a G to A substitution at nucleotide position 899, causing the arginine (R) at amino acid position 300 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