ENST00000303225.12:c.1069G>C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The ENST00000303225.12(FUT3):āc.1069G>Cā(p.Ala357Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000533 in 1,613,916 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A357T) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000303225.12 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FUT3 | NM_000149.4 | c.1069G>C | p.Ala357Pro | missense_variant | Exon 3 of 3 | NP_000140.1 | ||
FUT3 | NM_001097639.3 | c.1069G>C | p.Ala357Pro | missense_variant | Exon 3 of 3 | NP_001091108.3 | ||
FUT3 | NM_001097640.3 | c.1069G>C | p.Ala357Pro | missense_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.1069G>C | p.Ala357Pro | missense_variant | Exon 3 of 3 | 1 | ENSP00000305603.5 | |||
FUT3 | ENST00000458379.7 | c.1069G>C | p.Ala357Pro | missense_variant | Exon 2 of 2 | 1 | ENSP00000416443.1 | |||
FUT3 | ENST00000589620.6 | c.1069G>C | p.Ala357Pro | missense_variant | Exon 3 of 3 | 1 | ENSP00000465804.1 | |||
FUT3 | ENST00000589918.5 | c.1069G>C | p.Ala357Pro | missense_variant | Exon 3 of 3 | 1 | ENSP00000468123.1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152238Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251376Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135894
GnomAD4 exome AF: 0.0000520 AC: 76AN: 1461560Hom.: 0 Cov.: 32 AF XY: 0.0000729 AC XY: 53AN XY: 727066
GnomAD4 genome AF: 0.0000656 AC: 10AN: 152356Hom.: 0 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74502
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at