16-1809818-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005326.6(HAGH):c.763G>A(p.Gly255Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000167 in 1,613,328 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005326.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000107 AC: 27AN: 251352Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135860
GnomAD4 exome AF: 0.000181 AC: 264AN: 1461048Hom.: 0 Cov.: 33 AF XY: 0.000168 AC XY: 122AN XY: 726892
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152280Hom.: 0 Cov.: 33 AF XY: 0.0000671 AC XY: 5AN XY: 74468
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.763G>A (p.G255R) alteration is located in exon 8 (coding exon 8) of the HAGH gene. This alteration results from a G to A substitution at nucleotide position 763, causing the glycine (G) at amino acid position 255 to be replaced by an arginine (R). 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