chr21-26838216-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_006988.5(ADAMTS1):c.2267G>A(p.Arg756Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00393 in 1,613,836 control chromosomes in the GnomAD database, including 23 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R756W) has been classified as Uncertain significance.
Frequency
Consequence
NM_006988.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS1 | NM_006988.5 | c.2267G>A | p.Arg756Gln | missense_variant | 9/9 | ENST00000284984.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS1 | ENST00000284984.8 | c.2267G>A | p.Arg756Gln | missense_variant | 9/9 | 1 | NM_006988.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00243 AC: 369AN: 152058Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00276 AC: 693AN: 250878Hom.: 3 AF XY: 0.00322 AC XY: 437AN XY: 135796
GnomAD4 exome AF: 0.00408 AC: 5966AN: 1461660Hom.: 22 Cov.: 31 AF XY: 0.00420 AC XY: 3056AN XY: 727106
GnomAD4 genome AF: 0.00242 AC: 369AN: 152176Hom.: 1 Cov.: 32 AF XY: 0.00226 AC XY: 168AN XY: 74402
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at