chr12-43375448-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025003.5(ADAMTS20):c.5377G>C(p.Gly1793Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000372 in 1,613,208 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_025003.5 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 |
---|---|---|---|---|---|---|---|---|
ADAMTS20 | NM_025003.5 | c.5377G>C | p.Gly1793Arg | missense_variant | Exon 36 of 39 | ENST00000389420.8 | NP_079279.3 | |
ADAMTS20 | XM_011538754.3 | c.5380G>C | p.Gly1794Arg | missense_variant | Exon 36 of 39 | XP_011537056.1 | ||
ADAMTS20 | XM_017019979.2 | c.4165G>C | p.Gly1389Arg | missense_variant | Exon 29 of 32 | XP_016875468.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152086Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251046Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135688
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461122Hom.: 0 Cov.: 32 AF XY: 0.00000275 AC XY: 2AN XY: 726882
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152086Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74290
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5377G>C (p.G1793R) alteration is located in exon 36 (coding exon 36) of the ADAMTS20 gene. This alteration results from a G to C substitution at nucleotide position 5377, causing the glycine (G) at amino acid position 1793 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