17-81547121-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025161.6(FAAP100):c.1961G>A(p.Arg654His) variant causes a missense change. The variant allele was found at a frequency of 0.0000085 in 1,528,680 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. R654C) has been classified as Uncertain significance.
Frequency
Consequence
NM_025161.6 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: 0.0000395 AC: 6AN: 151972Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000541 AC: 1AN: 184916Hom.: 0 AF XY: 0.0000101 AC XY: 1AN XY: 98922
GnomAD4 exome AF: 0.00000508 AC: 7AN: 1376708Hom.: 0 Cov.: 36 AF XY: 0.00000592 AC XY: 4AN XY: 675782
GnomAD4 genome AF: 0.0000395 AC: 6AN: 151972Hom.: 0 Cov.: 33 AF XY: 0.0000404 AC XY: 3AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1961G>A (p.R654H) alteration is located in exon 5 (coding exon 5) of the FAAP100 gene. This alteration results from a G to A substitution at nucleotide position 1961, causing the arginine (R) at amino acid position 654 to be replaced by a histidine (H). 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