20-20070930-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015585.4(CFAP61):c.220C>T(p.Pro74Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000242 in 1,614,100 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P74R) has been classified as Likely benign.
Frequency
Consequence
NM_015585.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251218Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135768
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461810Hom.: 0 Cov.: 31 AF XY: 0.0000399 AC XY: 29AN XY: 727208
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152290Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74478
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.220C>T (p.P74S) alteration is located in exon 3 (coding exon 2) of the CFAP61 gene. This alteration results from a C to T substitution at nucleotide position 220, causing the proline (P) at amino acid position 74 to be replaced by a serine (S). 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