rs778986
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001382749.2(FUT3):āc.314T>Cā(p.Met105Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.831 in 1,614,000 control chromosomes in the GnomAD database, including 559,004 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001382749.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUT3 | NM_001382749.2 | c.314T>C | p.Met105Thr | missense_variant | 3/3 | ||
FUT3 | NM_001097639.3 | c.314T>C | p.Thr105= | synonymous_variant | 3/3 | ENST00000709635.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT3 | ENST00000303225.12 | c.314T>C | p.Met105Thr | missense_variant | 3/3 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.843 AC: 128130AN: 152004Hom.: 54177 Cov.: 32
GnomAD3 exomes AF: 0.840 AC: 211131AN: 251484Hom.: 89133 AF XY: 0.834 AC XY: 113342AN XY: 135916
GnomAD4 exome AF: 0.830 AC: 1213034AN: 1461876Hom.: 504757 Cov.: 83 AF XY: 0.828 AC XY: 602151AN XY: 727238
GnomAD4 genome ? AF: 0.843 AC: 128260AN: 152124Hom.: 54247 Cov.: 32 AF XY: 0.841 AC XY: 62549AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at