16-15884145-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The NM_144600.4(CEP20):c.89C>T(p.Ala30Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,613,966 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_144600.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152174Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000875 AC: 22AN: 251422 AF XY: 0.0000736 show subpopulations
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461792Hom.: 0 Cov.: 31 AF XY: 0.0000234 AC XY: 17AN XY: 727192 show subpopulations
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74356 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.89C>T (p.A30V) alteration is located in exon 2 (coding exon 2) of the FOPNL gene. This alteration results from a C to T substitution at nucleotide position 89, causing the alanine (A) at amino acid position 30 to be replaced by a valine (V). 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