14-65616025-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001371533.1(FUT8):c.251G>A(p.Arg84His) variant causes a missense change. The variant allele was found at a frequency of 0.00000821 in 1,461,694 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R84R) has been classified as Likely benign.
Frequency
Consequence
NM_001371533.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUT8 | NM_001371533.1 | c.251G>A | p.Arg84His | missense_variant | 4/11 | ENST00000673929.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT8 | ENST00000673929.1 | c.251G>A | p.Arg84His | missense_variant | 4/11 | NM_001371533.1 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 250964Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135632
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461694Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727142
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 26, 2023 | The c.251G>A (p.R84H) alteration is located in exon 4 (coding exon 2) of the FUT8 gene. This alteration results from a G to A substitution at nucleotide position 251, causing the arginine (R) at amino acid position 84 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