chr15-42559397-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018097.3(HAUS2):c.245C>T(p.Pro82Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00001 in 1,599,840 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018097.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HAUS2 | NM_018097.3 | c.245C>T | p.Pro82Leu | missense_variant | Exon 3 of 6 | ENST00000260372.8 | NP_060567.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250984Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135684
GnomAD4 exome AF: 0.00000414 AC: 6AN: 1447720Hom.: 0 Cov.: 26 AF XY: 0.00000277 AC XY: 2AN XY: 721206
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.245C>T (p.P82L) alteration is located in exon 3 (coding exon 3) of the HAUS2 gene. This alteration results from a C to T substitution at nucleotide position 245, causing the proline (P) at amino acid position 82 to be replaced by a leucine (L). 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