rs10418929
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 1P and 20B. PP2BP4_StrongBP6_Very_StrongBA1
The NM_030957.4(ADAMTS10):c.2584G>T(p.Ala862Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00594 in 1,611,990 control chromosomes in the GnomAD database, including 435 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_030957.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS10 | NM_030957.4 | c.2584G>T | p.Ala862Ser | missense_variant | 22/26 | ENST00000597188.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS10 | ENST00000597188.6 | c.2584G>T | p.Ala862Ser | missense_variant | 22/26 | 5 | NM_030957.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0301 AC: 4587AN: 152172Hom.: 236 Cov.: 33
GnomAD3 exomes AF: 0.00910 AC: 2256AN: 247826Hom.: 78 AF XY: 0.00719 AC XY: 969AN XY: 134726
GnomAD4 exome AF: 0.00341 AC: 4979AN: 1459700Hom.: 198 Cov.: 32 AF XY: 0.00311 AC XY: 2256AN XY: 726178
GnomAD4 genome ? AF: 0.0302 AC: 4599AN: 152290Hom.: 237 Cov.: 33 AF XY: 0.0300 AC XY: 2232AN XY: 74456
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | clinical testing | GeneDx | Jan 16, 2019 | - - |
Weill-Marchesani syndrome Benign:1
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jan 13, 2018 | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at