16-77284014-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_199355.4(ADAMTS18):c.3608T>C(p.Val1203Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,812 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1203L) has been classified as Uncertain significance.
Frequency
Consequence
NM_199355.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS18 | NM_199355.4 | c.3608T>C | p.Val1203Ala | missense_variant | 23/23 | ENST00000282849.10 | |
ADAMTS18 | NM_001326358.2 | c.3092T>C | p.Val1031Ala | missense_variant | 23/23 | ||
ADAMTS18 | XM_047433672.1 | c.2879T>C | p.Val960Ala | missense_variant | 19/19 | ||
ADAMTS18 | XM_047433673.1 | c.2372T>C | p.Val791Ala | missense_variant | 17/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS18 | ENST00000282849.10 | c.3608T>C | p.Val1203Ala | missense_variant | 23/23 | 1 | NM_199355.4 | P1 | |
ENST00000561672.1 | n.74-5262A>G | intron_variant, non_coding_transcript_variant | 2 | ||||||
ADAMTS18 | ENST00000562332.1 | c.96+5250T>C | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461812Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727214
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Invitae | Aug 26, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at