5-177524622-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001190946.3(FAM193B):c.1859G>A(p.Cys620Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000112 in 1,612,510 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001190946.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000444 AC: 11AN: 247640Hom.: 0 AF XY: 0.0000595 AC XY: 8AN XY: 134518
GnomAD4 exome AF: 0.000116 AC: 170AN: 1460302Hom.: 0 Cov.: 33 AF XY: 0.000110 AC XY: 80AN XY: 726410
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152208Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1859G>A (p.C620Y) alteration is located in exon 6 (coding exon 6) of the FAM193B gene. This alteration results from a G to A substitution at nucleotide position 1859, causing the cysteine (C) at amino acid position 620 to be replaced by a tyrosine (Y). 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