8-93704985-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM1PM2BP4
The NM_145269.5(CIBAR1):c.407G>A(p.Arg136Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000371 in 1,612,614 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145269.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152180Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000274 AC: 68AN: 248570Hom.: 0 AF XY: 0.000267 AC XY: 36AN XY: 134846
GnomAD4 exome AF: 0.000382 AC: 558AN: 1460434Hom.: 1 Cov.: 29 AF XY: 0.000388 AC XY: 282AN XY: 726532
GnomAD4 genome AF: 0.000263 AC: 40AN: 152180Hom.: 0 Cov.: 32 AF XY: 0.000256 AC XY: 19AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.407G>A (p.R136Q) alteration is located in exon 4 (coding exon 4) of the FAM92A1 gene. This alteration results from a G to A substitution at nucleotide position 407, causing the arginine (R) at amino acid position 136 to be replaced by a glutamine (Q). 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