rs35445112
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_014244.5(ADAMTS2):c.2480G>T(p.Arg827Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R827Q) has been classified as Likely benign.
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 | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS2 | NM_014244.5 | c.2480G>T | p.Arg827Leu | missense_variant | 17/22 | ENST00000251582.12 | |
ADAMTS2 | XM_047417895.1 | c.1985G>T | p.Arg662Leu | missense_variant | 16/21 | ||
ADAMTS2 | XM_047417896.1 | c.1598G>T | p.Arg533Leu | missense_variant | 15/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS2 | ENST00000251582.12 | c.2480G>T | p.Arg827Leu | missense_variant | 17/22 | 1 | NM_014244.5 | P2 | |
ADAMTS2 | ENST00000518335.3 | c.2480G>T | p.Arg827Leu | missense_variant | 17/21 | 3 | A2 | ||
ADAMTS2 | ENST00000698889.1 | c.2480G>T | p.Arg827Leu | missense_variant, NMD_transcript_variant | 17/21 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1461496Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727064
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at