17-9576721-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_145054.5(CFAP52):c.26C>T(p.Ala9Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000164 in 1,612,308 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145054.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152258Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000105 AC: 26AN: 247744Hom.: 0 AF XY: 0.0000967 AC XY: 13AN XY: 134472
GnomAD4 exome AF: 0.000172 AC: 251AN: 1460050Hom.: 0 Cov.: 30 AF XY: 0.000157 AC XY: 114AN XY: 726286
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152258Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.26C>T (p.A9V) alteration is located in exon 1 (coding exon 1) of the CFAP52 gene. This alteration results from a C to T substitution at nucleotide position 26, causing the alanine (A) at amino acid position 9 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