14-65629579-G-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM2BP4_StrongBP7BS1
The NM_001371533.1(FUT8):c.570G>T(p.Leu190=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000409 in 1,613,382 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L190L) has been classified as Benign.
Frequency
Consequence
NM_001371533.1 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FUT8 | NM_001371533.1 | c.570G>T | p.Leu190= | synonymous_variant | 6/11 | ENST00000673929.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FUT8 | ENST00000673929.1 | c.570G>T | p.Leu190= | synonymous_variant | 6/11 | NM_001371533.1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000278 AC: 70AN: 251380Hom.: 0 AF XY: 0.000258 AC XY: 35AN XY: 135870
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461154Hom.: 0 Cov.: 29 AF XY: 0.0000330 AC XY: 24AN XY: 726924
GnomAD4 genome ? AF: 0.0000920 AC: 14AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74430
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at