17-9656505-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_153210.5(USP43):c.607G>A(p.Gly203Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000248 in 1,611,178 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153210.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
USP43 | ENST00000285199.12 | c.607G>A | p.Gly203Ser | missense_variant | Exon 2 of 15 | 1 | NM_153210.5 | ENSP00000285199.6 | ||
USP43 | ENST00000570475.5 | c.607G>A | p.Gly203Ser | missense_variant | Exon 2 of 15 | 1 | ENSP00000458963.1 | |||
USP43 | ENST00000574408.5 | c.69G>A | p.Arg23Arg | synonymous_variant | Exon 1 of 13 | 1 | ENSP00000459328.3 | |||
USP43 | ENST00000570827.6 | n.748G>A | non_coding_transcript_exon_variant | Exon 2 of 15 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000123 AC: 3AN: 243706Hom.: 0 AF XY: 0.00000757 AC XY: 1AN XY: 132036
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1458994Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 725412
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74368
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.607G>A (p.G203S) alteration is located in exon 2 (coding exon 2) of the USP43 gene. This alteration results from a G to A substitution at nucleotide position 607, causing the glycine (G) at amino acid position 203 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