rs149708395
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_014244.5(ADAMTS2):c.2110G>C(p.Gly704Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. G704S) has been classified as Uncertain significance.
Frequency
Consequence
NM_014244.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS2 | NM_014244.5 | c.2110G>C | p.Gly704Arg | missense_variant | 14/22 | ENST00000251582.12 | |
ADAMTS2 | XM_047417895.1 | c.1615G>C | p.Gly539Arg | missense_variant | 13/21 | ||
ADAMTS2 | XM_047417896.1 | c.1228G>C | p.Gly410Arg | missense_variant | 12/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS2 | ENST00000251582.12 | c.2110G>C | p.Gly704Arg | missense_variant | 14/22 | 1 | NM_014244.5 | P2 | |
ADAMTS2 | ENST00000518335.3 | c.2110G>C | p.Gly704Arg | missense_variant | 14/21 | 3 | A2 | ||
ADAMTS2 | ENST00000698889.1 | c.2110G>C | p.Gly704Arg | missense_variant, NMD_transcript_variant | 14/21 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461676Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727128
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at