19-5843865-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_000149.4(FUT3):c.975G>A(p.Thr325Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000599 in 1,612,920 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000149.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FUT3 | NM_000149.4 | c.975G>A | p.Thr325Thr | synonymous_variant | Exon 3 of 3 | NP_000140.1 | ||
FUT3 | NM_001097639.3 | c.975G>A | p.Thr325Thr | synonymous_variant | Exon 3 of 3 | NP_001091108.3 | ||
FUT3 | NM_001097640.3 | c.975G>A | p.Thr325Thr | synonymous_variant | Exon 3 of 3 | NP_001091109.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FUT3 | ENST00000303225.12 | c.975G>A | p.Thr325Thr | synonymous_variant | Exon 3 of 3 | 1 | ENSP00000305603.5 | |||
FUT3 | ENST00000458379.7 | c.975G>A | p.Thr325Thr | synonymous_variant | Exon 2 of 2 | 1 | ENSP00000416443.1 | |||
FUT3 | ENST00000589620.6 | c.975G>A | p.Thr325Thr | synonymous_variant | Exon 3 of 3 | 1 | ENSP00000465804.1 | |||
FUT3 | ENST00000589918.5 | c.975G>A | p.Thr325Thr | synonymous_variant | Exon 3 of 3 | 1 | ENSP00000468123.1 |
Frequencies
GnomAD3 genomes AF: 0.00334 AC: 508AN: 152238Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000844 AC: 212AN: 251096Hom.: 0 AF XY: 0.000619 AC XY: 84AN XY: 135780
GnomAD4 exome AF: 0.000312 AC: 456AN: 1460562Hom.: 2 Cov.: 34 AF XY: 0.000248 AC XY: 180AN XY: 726580
GnomAD4 genome AF: 0.00335 AC: 510AN: 152358Hom.: 2 Cov.: 32 AF XY: 0.00311 AC XY: 232AN XY: 74504
ClinVar
Submissions by phenotype
FUT3-related disorder Benign:1
This variant is classified as 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