chr16-77283994-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_199355.4(ADAMTS18):c.3628G>A(p.Gly1210Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000245 in 1,613,936 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G1210G) has been classified as Likely benign.
Frequency
Consequence
NM_199355.4 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 |
---|---|---|---|---|---|---|---|
ADAMTS18 | NM_199355.4 | c.3628G>A | p.Gly1210Arg | missense_variant | 23/23 | ENST00000282849.10 | |
ADAMTS18 | NM_001326358.2 | c.3112G>A | p.Gly1038Arg | missense_variant | 23/23 | ||
ADAMTS18 | XM_047433672.1 | c.2899G>A | p.Gly967Arg | missense_variant | 19/19 | ||
ADAMTS18 | XM_047433673.1 | c.2392G>A | p.Gly798Arg | missense_variant | 17/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS18 | ENST00000282849.10 | c.3628G>A | p.Gly1210Arg | missense_variant | 23/23 | 1 | NM_199355.4 | P1 | |
ENST00000561672.1 | n.74-5282C>T | intron_variant, non_coding_transcript_variant | 2 | ||||||
ADAMTS18 | ENST00000562332.1 | c.96+5270G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00127 AC: 193AN: 152048Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000319 AC: 80AN: 251134Hom.: 0 AF XY: 0.000273 AC XY: 37AN XY: 135704
GnomAD4 exome AF: 0.000139 AC: 203AN: 1461770Hom.: 0 Cov.: 30 AF XY: 0.000122 AC XY: 89AN XY: 727202
GnomAD4 genome ? AF: 0.00127 AC: 193AN: 152166Hom.: 0 Cov.: 31 AF XY: 0.00120 AC XY: 89AN XY: 74378
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 30, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at