8-93704930-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145269.5(CIBAR1):āc.352A>Cā(p.Thr118Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000187 in 1,607,426 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000246 AC: 6AN: 243988Hom.: 0 AF XY: 0.0000151 AC XY: 2AN XY: 132130
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1455208Hom.: 0 Cov.: 30 AF XY: 0.0000152 AC XY: 11AN XY: 723392
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.352A>C (p.T118P) alteration is located in exon 4 (coding exon 4) of the FAM92A1 gene. This alteration results from a A to C substitution at nucleotide position 352, causing the threonine (T) at amino acid position 118 to be replaced by a proline (P). 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