rs745588970
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014244.5(ADAMTS2):c.200A>T(p.Gln67Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000275 in 1,456,988 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014244.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAMTS2 | NM_014244.5 | c.200A>T | p.Gln67Leu | missense_variant | 2/22 | ENST00000251582.12 | NP_055059.2 | |
ADAMTS2 | NM_021599.4 | c.200A>T | p.Gln67Leu | missense_variant | 2/11 | NP_067610.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAMTS2 | ENST00000251582.12 | c.200A>T | p.Gln67Leu | missense_variant | 2/22 | 1 | NM_014244.5 | ENSP00000251582.7 | ||
ADAMTS2 | ENST00000274609.5 | c.200A>T | p.Gln67Leu | missense_variant | 2/11 | 1 | ENSP00000274609.5 | |||
ADAMTS2 | ENST00000518335.3 | c.200A>T | p.Gln67Leu | missense_variant | 2/21 | 3 | ENSP00000489888.2 | |||
ADAMTS2 | ENST00000698889.1 | n.200A>T | non_coding_transcript_exon_variant | 2/21 | ENSP00000514008.1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.0000171 AC: 4AN: 233578Hom.: 0 AF XY: 0.0000156 AC XY: 2AN XY: 128536
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1456988Hom.: 0 Cov.: 35 AF XY: 0.00000276 AC XY: 2AN XY: 724254
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at