rs147112200
Variant summary
Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS1
The NM_139027.6(ADAMTS13):c.2580C>T(p.Val860Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000891 in 1,613,392 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_139027.6 synonymous
Scores
Clinical Significance
Conservation
Publications
- congenital thrombotic thrombocytopenic purpuraInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Genomics England PanelApp, Orphanet, ClinGen, Labcorp Genetics (formerly Invitae)
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ACMG classification
Our verdict: Benign. The variant received -10 ACMG points.
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_139027.6. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ADAMTS13 | MANE Select | c.2580C>T | p.Val860Val | synonymous | Exon 20 of 29 | NP_620596.2 | Q76LX8-2 | ||
| ADAMTS13 | c.2580C>T | p.Val860Val | synonymous | Exon 20 of 29 | NP_620594.1 | Q76LX8-1 | |||
| ADAMTS13 | c.2487C>T | p.Val829Val | synonymous | Exon 20 of 29 | NP_620595.1 | Q76LX8-3 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| ADAMTS13 | TSL:1 MANE Select | c.2580C>T | p.Val860Val | synonymous | Exon 20 of 29 | ENSP00000347927.2 | Q76LX8-2 | ||
| ADAMTS13 | TSL:1 | c.2580C>T | p.Val860Val | synonymous | Exon 20 of 29 | ENSP00000360997.3 | Q76LX8-1 | ||
| ADAMTS13 | TSL:1 | c.2487C>T | p.Val829Val | synonymous | Exon 20 of 29 | ENSP00000348997.2 | Q76LX8-3 |
Frequencies
GnomAD3 genomes AF: 0.000729 AC: 111AN: 152198Hom.: 0 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.000877 AC: 219AN: 249788 AF XY: 0.000938 show subpopulations
GnomAD4 exome AF: 0.000908 AC: 1327AN: 1461076Hom.: 1 Cov.: 32 AF XY: 0.000926 AC XY: 673AN XY: 726828 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.000729 AC: 111AN: 152316Hom.: 0 Cov.: 33 AF XY: 0.000725 AC XY: 54AN XY: 74482 show subpopulations
Age Distribution
ClinVar
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at