chr14-22947214-C-T
Variant summary
Our verdict is Likely benign. The variant received -1 ACMG points: 0P and 1B. BP4
The NM_001166269.2(HAUS4):c.865G>A(p.Asp289Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000185 in 1,456,866 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
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HAUS4 | NM_001166269.2 | c.865G>A | p.Asp289Asn | missense_variant | Exon 9 of 10 | ENST00000541587.6 | NP_001159741.1 | |
HAUS4 | NM_017815.3 | c.865G>A | p.Asp289Asn | missense_variant | Exon 9 of 10 | NP_060285.2 | ||
HAUS4 | NM_001166270.2 | c.730G>A | p.Asp244Asn | missense_variant | Exon 8 of 9 | NP_001159742.1 | ||
PRMT5-DT | NR_110002.1 | n.195-7117C>T | intron_variant | Intron 2 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HAUS4 | ENST00000541587.6 | c.865G>A | p.Asp289Asn | missense_variant | Exon 9 of 10 | 1 | NM_001166269.2 | ENSP00000441026.1 | ||
ENSG00000259132 | ENST00000555074.1 | c.352G>A | p.Asp118Asn | missense_variant | Exon 4 of 5 | 2 | ENSP00000450856.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD2 exomes AF: 0.0000438 AC: 11AN: 251382 AF XY: 0.0000515 show subpopulations
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1456866Hom.: 0 Cov.: 28 AF XY: 0.0000290 AC XY: 21AN XY: 725108 show subpopulations
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.865G>A (p.D289N) 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 865, causing the aspartic acid (D) at amino acid position 289 to be replaced by an asparagine (N). 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