rs143764421
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014244.5(ADAMTS2):āc.748G>Cā(p.Ala250Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 152,222 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 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. A250T) 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.748G>C | p.Ala250Pro | missense_variant | 4/22 | ENST00000251582.12 | |
ADAMTS2 | NM_021599.4 | c.748G>C | p.Ala250Pro | missense_variant | 4/11 | ||
ADAMTS2 | XM_047417895.1 | c.253G>C | p.Ala85Pro | missense_variant | 3/21 | ||
ADAMTS2 | XM_047417896.1 | c.-135G>C | 5_prime_UTR_variant | 2/20 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS2 | ENST00000251582.12 | c.748G>C | p.Ala250Pro | missense_variant | 4/22 | 1 | NM_014244.5 | P2 | |
ADAMTS2 | ENST00000274609.5 | c.748G>C | p.Ala250Pro | missense_variant | 4/11 | 1 | |||
ADAMTS2 | ENST00000518335.3 | c.748G>C | p.Ala250Pro | missense_variant | 4/21 | 3 | A2 | ||
ADAMTS2 | ENST00000698889.1 | c.748G>C | p.Ala250Pro | missense_variant, NMD_transcript_variant | 4/21 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152222Hom.: 0 Cov.: 34
GnomAD4 exome Cov.: 62
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152222Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74362
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at