5-179806526-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014275.5(MGAT4B):c.58C>T(p.Leu20Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000896 in 1,339,912 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. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014275.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000134 AC: 2AN: 149476Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000840 AC: 10AN: 1190436Hom.: 0 Cov.: 30 AF XY: 0.00000511 AC XY: 3AN XY: 586970
GnomAD4 genome AF: 0.0000134 AC: 2AN: 149476Hom.: 0 Cov.: 32 AF XY: 0.0000137 AC XY: 1AN XY: 72854
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.58C>T (p.L20F) alteration is located in exon 1 (coding exon 1) of the MGAT4B gene. This alteration results from a C to T substitution at nucleotide position 58, causing the leucine (L) at amino acid position 20 to be replaced by a phenylalanine (F). 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