19-5866843-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002034.2(FUT5):c.883G>A(p.Glu295Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000349 in 1,606,878 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E295Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_002034.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUT5 | NM_002034.2 | c.883G>A | p.Glu295Lys | missense_variant | 2/2 | ENST00000588525.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT5 | ENST00000588525.1 | c.883G>A | p.Glu295Lys | missense_variant | 2/2 | 1 | NM_002034.2 | P1 | |
FUT5 | ENST00000252675.6 | c.883G>A | p.Glu295Lys | missense_variant | 1/1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000667 AC: 1AN: 149814Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.0000187 AC: 4AN: 213750Hom.: 0 AF XY: 0.0000170 AC XY: 2AN XY: 117648
GnomAD4 exome AF: 0.0000377 AC: 55AN: 1457064Hom.: 0 Cov.: 92 AF XY: 0.0000386 AC XY: 28AN XY: 724802
GnomAD4 genome AF: 0.00000667 AC: 1AN: 149814Hom.: 0 Cov.: 28 AF XY: 0.0000137 AC XY: 1AN XY: 72968
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at