19-5832050-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000150.4(FUT6):c.518C>T(p.Pro173Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000304 in 1,613,526 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000150.4 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 |
---|---|---|---|---|---|---|---|
FUT6 | NM_000150.4 | c.518C>T | p.Pro173Leu | missense_variant | 3/3 | ENST00000318336.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT6 | ENST00000318336.10 | c.518C>T | p.Pro173Leu | missense_variant | 3/3 | 2 | NM_000150.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000855 AC: 13AN: 152116Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249660Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135358
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461292Hom.: 0 Cov.: 87 AF XY: 0.0000275 AC XY: 20AN XY: 726966
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152234Hom.: 0 Cov.: 31 AF XY: 0.0000940 AC XY: 7AN XY: 74430
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 13, 2022 | The c.518C>T (p.P173L) alteration is located in exon 3 (coding exon 1) of the FUT6 gene. This alteration results from a C to T substitution at nucleotide position 518, causing the proline (P) at amino acid position 173 to be replaced by a leucine (L). 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