9-133426349-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_139027.6(ADAMTS13):c.686+4T>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0747 in 1,599,886 control chromosomes in the GnomAD database, including 5,192 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_139027.6 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0561 AC: 8536AN: 152082Hom.: 342 Cov.: 33
GnomAD3 exomes AF: 0.0580 AC: 13946AN: 240260Hom.: 585 AF XY: 0.0586 AC XY: 7664AN XY: 130844
GnomAD4 exome AF: 0.0767 AC: 111029AN: 1447686Hom.: 4851 Cov.: 36 AF XY: 0.0748 AC XY: 53910AN XY: 720616
GnomAD4 genome AF: 0.0561 AC: 8532AN: 152200Hom.: 341 Cov.: 33 AF XY: 0.0550 AC XY: 4092AN XY: 74414
ClinVar
Submissions by phenotype
not provided Benign:3
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This variant is associated with the following publications: (PMID: 26284228) -
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