chr3-49111038-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001199161.2(USP19):c.3457G>A(p.Gly1153Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000545 in 1,614,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001199161.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000522 AC: 13AN: 249224Hom.: 0 AF XY: 0.0000518 AC XY: 7AN XY: 135242
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1461736Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 24AN XY: 727166
GnomAD4 genome AF: 0.000210 AC: 32AN: 152304Hom.: 0 Cov.: 32 AF XY: 0.000242 AC XY: 18AN XY: 74480
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.3451G>A (p.G1151S) alteration is located in exon 23 (coding exon 22) of the USP19 gene. This alteration results from a G to A substitution at nucleotide position 3451, causing the glycine (G) at amino acid position 1151 to be replaced by a serine (S). 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