3-64522185-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_182920.2(ADAMTS9):c.5794G>A(p.Val1932Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182920.2 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 |
---|---|---|---|---|---|---|---|---|
ADAMTS9 | NM_182920.2 | c.5794G>A | p.Val1932Met | missense_variant | Exon 39 of 40 | ENST00000498707.5 | NP_891550.1 | |
ADAMTS9 | NM_001318781.2 | c.5710G>A | p.Val1904Met | missense_variant | Exon 38 of 39 | NP_001305710.1 | ||
ADAMTS9 | XR_007095711.1 | n.6053G>A | non_coding_transcript_exon_variant | Exon 38 of 40 | ||||
ADAMTS9 | XR_245151.1 | n.6137G>A | non_coding_transcript_exon_variant | Exon 39 of 41 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.5794G>A (p.V1932M) alteration is located in exon 39 (coding exon 39) of the ADAMTS9 gene. This alteration results from a G to A substitution at nucleotide position 5794, causing the valine (V) at amino acid position 1932 to be replaced by a methionine (M). 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
Publications
No publications associated with this variant yet.