12-109072336-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032663.5(USP30):c.611C>T(p.Thr204Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,612,978 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_032663.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
USP30 | NM_032663.5 | c.611C>T | p.Thr204Ile | missense_variant | 6/13 | ENST00000257548.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USP30 | ENST00000257548.10 | c.611C>T | p.Thr204Ile | missense_variant | 6/13 | 1 | NM_032663.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151804Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251318Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135836
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1461174Hom.: 0 Cov.: 33 AF XY: 0.0000206 AC XY: 15AN XY: 726936
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151804Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74112
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at