chr19-5843930-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001382749.2(FUT3):āc.910C>Gā(p.Arg304Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,612,212 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R304Q) has been classified as Likely benign.
Frequency
Consequence
NM_001382749.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUT3 | NM_001097639.3 | c.910C>G | p.Arg304Gly | missense_variant | 3/3 | ENST00000709635.1 | |
FUT3 | NM_001382749.2 | c.910C>G | p.Arg304Gly | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT3 | ENST00000303225.12 | c.910C>G | p.Arg304Gly | missense_variant | 3/3 | 1 | P1 | ||
FUT3 | ENST00000458379.7 | c.910C>G | p.Arg304Gly | missense_variant | 2/2 | 1 | P1 | ||
FUT3 | ENST00000589620.6 | c.910C>G | p.Arg304Gly | missense_variant | 3/3 | 1 | P1 | ||
FUT3 | ENST00000589918.5 | c.910C>G | p.Arg304Gly | missense_variant | 3/3 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000202 AC: 5AN: 247814Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134340
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1460074Hom.: 0 Cov.: 33 AF XY: 0.0000193 AC XY: 14AN XY: 726346
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74326
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2023 | The c.910C>G (p.R304G) alteration is located in exon 3 (coding exon 1) of the FUT3 gene. This alteration results from a C to G substitution at nucleotide position 910, causing the arginine (R) at amino acid position 304 to be replaced by a glycine (G). 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