8-33388986-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032664.3(FUT10):c.1189G>A(p.Ala397Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000131 in 1,614,006 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032664.3 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: 0.000131 AC: 20AN: 152190Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000135 AC: 34AN: 251220Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135764
GnomAD4 exome AF: 0.000131 AC: 192AN: 1461816Hom.: 0 Cov.: 30 AF XY: 0.000146 AC XY: 106AN XY: 727220
GnomAD4 genome AF: 0.000131 AC: 20AN: 152190Hom.: 0 Cov.: 31 AF XY: 0.000134 AC XY: 10AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1189G>A (p.A397T) alteration is located in exon 4 (coding exon 3) of the FUT10 gene. This alteration results from a G to A substitution at nucleotide position 1189, causing the alanine (A) at amino acid position 397 to be replaced by a threonine (T). 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