20-20056792-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015585.4(CFAP61):c.139C>G(p.Leu47Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000744 in 1,613,918 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. L47L) has been classified as Likely benign.
Frequency
Consequence
NM_015585.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461656Hom.: 1 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727130
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152262Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.139C>G (p.L47V) alteration is located in exon 2 (coding exon 1) of the CFAP61 gene. This alteration results from a C to G substitution at nucleotide position 139, causing the leucine (L) at amino acid position 47 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