8-93726418-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145269.5(CIBAR1):c.682C>A(p.Pro228Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000291 in 1,613,154 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000224 AC: 34AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000402 AC: 10AN: 248796Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134986
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460944Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726784
GnomAD4 genome AF: 0.000223 AC: 34AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74404
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.682C>A (p.P228T) alteration is located in exon 8 (coding exon 8) of the FAM92A1 gene. This alteration results from a C to A substitution at nucleotide position 682, causing the proline (P) at amino acid position 228 to be replaced by a threonine (T). 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