chr9-133422462-C-T
Variant summary
Our verdict is Benign. The variant received -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_139027.6(ADAMTS13):c.19C>T(p.Arg7Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.111 in 1,613,772 control chromosomes in the GnomAD database, including 11,180 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict 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. R7Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_139027.6 missense
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 -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0928 AC: 14117AN: 152150Hom.: 802 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0906 AC: 22741AN: 251060 AF XY: 0.0918 show subpopulations
GnomAD4 exome AF: 0.113 AC: 165459AN: 1461504Hom.: 10378 Cov.: 32 AF XY: 0.111 AC XY: 80750AN XY: 727092 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0928 AC: 14123AN: 152268Hom.: 802 Cov.: 32 AF XY: 0.0924 AC XY: 6881AN XY: 74462 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not provided Benign:3
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This variant is associated with the following publications: (PMID: 12614216, 16160007, 32531546) -
not specified Benign:1
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Upshaw-Schulman syndrome Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at