chr19-5844409-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001382749.2(FUT3):āc.431A>Gā(p.Gln144Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000154 in 1,614,178 control chromosomes in the GnomAD database, including 1 homozygotes. 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 ).
Frequency
Consequence
NM_001382749.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUT3 | NM_001097639.3 | c.431A>G | p.Gln144Arg | missense_variant | 3/3 | ENST00000709635.1 | |
FUT3 | NM_001382749.2 | c.431A>G | p.Gln144Arg | missense_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT3 | ENST00000303225.12 | c.431A>G | p.Gln144Arg | missense_variant | 3/3 | 1 | P1 | ||
FUT3 | ENST00000458379.7 | c.431A>G | p.Gln144Arg | missense_variant | 2/2 | 1 | P1 | ||
FUT3 | ENST00000589620.6 | c.431A>G | p.Gln144Arg | missense_variant | 3/3 | 1 | P1 | ||
FUT3 | ENST00000589918.5 | c.431A>G | p.Gln144Arg | missense_variant | 3/3 | 1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000342 AC: 86AN: 251464Hom.: 0 AF XY: 0.000316 AC XY: 43AN XY: 135908
GnomAD4 exome AF: 0.000155 AC: 227AN: 1461890Hom.: 1 Cov.: 36 AF XY: 0.000165 AC XY: 120AN XY: 727248
GnomAD4 genome AF: 0.000144 AC: 22AN: 152288Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74454
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 18, 2021 | The c.431A>G (p.Q144R) alteration is located in exon 3 (coding exon 1) of the FUT3 gene. This alteration results from a A to G substitution at nucleotide position 431, causing the glutamine (Q) at amino acid position 144 to be replaced by an arginine (R). 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