rs2071699
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001384359.1(FUT1):c.35C>T(p.Ala12Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0343 in 1,614,056 control chromosomes in the GnomAD database, including 3,804 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001384359.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUT1 | NM_001384359.1 | c.35C>T | p.Ala12Val | missense_variant | 2/2 | ENST00000645652.2 | |
FUT1 | NM_000148.4 | c.35C>T | p.Ala12Val | missense_variant | 4/4 | ||
FUT1 | NM_001329877.1 | c.35C>T | p.Ala12Val | missense_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT1 | ENST00000645652.2 | c.35C>T | p.Ala12Val | missense_variant | 2/2 | NM_001384359.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0317 AC: 4829AN: 152170Hom.: 313 Cov.: 33
GnomAD3 exomes AF: 0.0590 AC: 14801AN: 250760Hom.: 1119 AF XY: 0.0587 AC XY: 7968AN XY: 135658
GnomAD4 exome AF: 0.0346 AC: 50600AN: 1461768Hom.: 3493 Cov.: 33 AF XY: 0.0363 AC XY: 26409AN XY: 727170
GnomAD4 genome AF: 0.0317 AC: 4821AN: 152288Hom.: 311 Cov.: 33 AF XY: 0.0358 AC XY: 2669AN XY: 74464
ClinVar
Submissions by phenotype
FUT1-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 25, 2020 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at