16-697387-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_153350.4(FBXL16):c.19G>A(p.Asp7Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000128 in 1,535,494 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153350.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 152036Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000219 AC: 29AN: 132542Hom.: 0 AF XY: 0.000304 AC XY: 22AN XY: 72270
GnomAD4 exome AF: 0.000134 AC: 186AN: 1383340Hom.: 1 Cov.: 39 AF XY: 0.000158 AC XY: 108AN XY: 682768
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152154Hom.: 0 Cov.: 31 AF XY: 0.0000672 AC XY: 5AN XY: 74398
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.19G>A (p.D7N) alteration is located in exon 2 (coding exon 1) of the FBXL16 gene. This alteration results from a G to A substitution at nucleotide position 19, causing the aspartic acid (D) at amino acid position 7 to be replaced by an asparagine (N). 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