4-143185894-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032557.6(USP38):c.444C>G(p.Ser148Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,614,026 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032557.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
USP38 | NM_032557.6 | c.444C>G | p.Ser148Arg | missense_variant | Exon 1 of 10 | ENST00000307017.9 | NP_115946.2 | |
USP38 | NM_001410848.1 | c.444C>G | p.Ser148Arg | missense_variant | Exon 1 of 9 | NP_001397777.1 | ||
USP38 | NM_001290325.1 | c.444C>G | p.Ser148Arg | missense_variant | Exon 1 of 9 | NP_001277254.1 | ||
USP38 | NM_001290326.1 | c.-1038C>G | 5_prime_UTR_variant | Exon 1 of 11 | NP_001277255.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251424Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135888
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461894Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 727248
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.444C>G (p.S148R) alteration is located in exon 1 (coding exon 1) of the USP38 gene. This alteration results from a C to G substitution at nucleotide position 444, causing the serine (S) at amino acid position 148 to be replaced by an arginine (R). 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