9-18533270-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001040272.6(ADAMTSL1):c.215G>A(p.Arg72Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000723 in 1,603,950 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 Uncertain significance (★).
Frequency
Consequence
NM_001040272.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 151904Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000530 AC: 13AN: 245142Hom.: 0 AF XY: 0.0000678 AC XY: 9AN XY: 132728
GnomAD4 exome AF: 0.0000723 AC: 105AN: 1452046Hom.: 0 Cov.: 29 AF XY: 0.0000803 AC XY: 58AN XY: 722418
GnomAD4 genome AF: 0.0000724 AC: 11AN: 151904Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74178
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.215G>A (p.R72Q) alteration is located in exon 3 (coding exon 3) of the ADAMTSL1 gene. This alteration results from a G to A substitution at nucleotide position 215, causing the arginine (R) at amino acid position 72 to be replaced by a glutamine (Q). 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