12-43376619-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_025003.5(ADAMTS20):c.5030G>C(p.Arg1677Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000093 in 1,613,176 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAMTS20 | NM_025003.5 | c.5030G>C | p.Arg1677Thr | missense_variant | Exon 33 of 39 | ENST00000389420.8 | NP_079279.3 | |
ADAMTS20 | XM_011538754.3 | c.5033G>C | p.Arg1678Thr | missense_variant | Exon 33 of 39 | XP_011537056.1 | ||
ADAMTS20 | XM_017019979.2 | c.3818G>C | p.Arg1273Thr | missense_variant | Exon 26 of 32 | XP_016875468.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250264Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135230
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1460974Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726730
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5030G>C (p.R1677T) alteration is located in exon 33 (coding exon 33) of the ADAMTS20 gene. This alteration results from a G to C substitution at nucleotide position 5030, causing the arginine (R) at amino acid position 1677 to be replaced by a threonine (T). 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