rs80311637
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182920.2(ADAMTS9):c.4789G>T(p.Val1597Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,461,880 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V1597M) has been classified as Benign.
Frequency
Consequence
NM_182920.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS9 | NM_182920.2 | c.4789G>T | p.Val1597Leu | missense_variant | 31/40 | ENST00000498707.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS9 | ENST00000498707.5 | c.4789G>T | p.Val1597Leu | missense_variant | 31/40 | 1 | NM_182920.2 | P1 | |
ADAMTS9 | ENST00000295903.8 | c.4705G>T | p.Val1569Leu | missense_variant | 30/39 | 1 | |||
ADAMTS9 | ENST00000482490.5 | n.4316G>T | non_coding_transcript_exon_variant | 30/30 | 1 | ||||
ADAMTS9 | ENST00000481060.2 | c.1957G>T | p.Val653Leu | missense_variant | 12/21 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461880Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 727244
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at