8-93701433-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_145269.5(CIBAR1):āc.236A>Gā(p.Lys79Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000359 in 1,613,496 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_145269.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151968Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000322 AC: 8AN: 248750Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 134968
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1461528Hom.: 0 Cov.: 31 AF XY: 0.0000344 AC XY: 25AN XY: 727004
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151968Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74240
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.236A>G (p.K79R) alteration is located in exon 2 (coding exon 2) of the FAM92A1 gene. This alteration results from a A to G substitution at nucleotide position 236, causing the lysine (K) at amino acid position 79 to be replaced by an arginine (R). 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