chr2-218466107-G-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_020935.3(USP37):āc.2369C>Gā(p.Ser790Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000644 in 1,613,930 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_020935.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
USP37 | NM_020935.3 | c.2369C>G | p.Ser790Cys | missense_variant | 21/26 | ENST00000258399.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USP37 | ENST00000258399.8 | c.2369C>G | p.Ser790Cys | missense_variant | 21/26 | 1 | NM_020935.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000796 AC: 20AN: 251166Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135738
GnomAD4 exome AF: 0.0000677 AC: 99AN: 1461670Hom.: 1 Cov.: 30 AF XY: 0.0000990 AC XY: 72AN XY: 727134
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74458
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2023 | The c.2369C>G (p.S790C) alteration is located in exon 21 (coding exon 18) of the USP37 gene. This alteration results from a C to G substitution at nucleotide position 2369, causing the serine (S) at amino acid position 790 to be replaced by a cysteine (C). 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