5-177525021-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001190946.3(FAM193B):c.1460G>C(p.Arg487Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000128 in 1,557,738 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. R487C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001190946.3 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: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000493 AC: 1AN: 202812Hom.: 0 AF XY: 0.00000914 AC XY: 1AN XY: 109442
GnomAD4 exome AF: 7.11e-7 AC: 1AN: 1405526Hom.: 0 Cov.: 33 AF XY: 0.00000144 AC XY: 1AN XY: 695176
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152212Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1460G>C (p.R487P) alteration is located in exon 6 (coding exon 6) of the FAM193B gene. This alteration results from a G to C substitution at nucleotide position 1460, causing the arginine (R) at amino acid position 487 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