chr14-57581219-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001352013.2(SLC35F4):c.-220G>A variant causes a 5 prime UTR premature start codon gain change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000964 in 1,556,714 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001352013.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000192 AC: 4AN: 208736Hom.: 0 AF XY: 0.0000266 AC XY: 3AN XY: 112760
GnomAD4 exome AF: 0.00000214 AC: 3AN: 1404454Hom.: 0 Cov.: 30 AF XY: 0.00000288 AC XY: 2AN XY: 693642
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74434
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.799G>A (p.V267M) alteration is located in exon 4 (coding exon 4) of the SLC35F4 gene. This alteration results from a G to A substitution at nucleotide position 799, causing the valine (V) at amino acid position 267 to be replaced by a methionine (M). 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