16-30925906-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001282351.1(FBXL19):c.-727C>T 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 0.000000744 in 1,343,300 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001282351.1 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXL19 | NM_001382779.1 | c.152C>T | p.Ser51Leu | missense_variant | Exon 2 of 11 | ENST00000338343.10 | NP_001369708.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000760 AC: 1AN: 131598Hom.: 0 AF XY: 0.0000140 AC XY: 1AN XY: 71616
GnomAD4 exome AF: 7.44e-7 AC: 1AN: 1343300Hom.: 0 Cov.: 30 AF XY: 0.00000152 AC XY: 1AN XY: 660012
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.212C>T (p.S71L) alteration is located in exon 2 (coding exon 2) of the FBXL19 gene. This alteration results from a C to T substitution at nucleotide position 212, causing the serine (S) at amino acid position 71 to be replaced by a leucine (L). 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