17-81983649-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024083.4(ASPSCR1):c.254G>A(p.Arg85His) variant causes a missense change. The variant allele was found at a frequency of 0.0000465 in 1,612,290 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_024083.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000725 AC: 11AN: 151646Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000483 AC: 12AN: 248322Hom.: 0 AF XY: 0.0000372 AC XY: 5AN XY: 134516
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1460644Hom.: 0 Cov.: 31 AF XY: 0.0000482 AC XY: 35AN XY: 726478
GnomAD4 genome AF: 0.0000725 AC: 11AN: 151646Hom.: 0 Cov.: 30 AF XY: 0.0000540 AC XY: 4AN XY: 74052
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.254G>A (p.R85H) alteration is located in exon 3 (coding exon 3) of the ASPSCR1 gene. This alteration results from a G to A substitution at nucleotide position 254, causing the arginine (R) at amino acid position 85 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