rs36221451
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_139027.6(ADAMTS13):c.2218G>A(p.Glu740Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00195 in 1,612,788 control chromosomes in the GnomAD database, including 70 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_139027.6 missense
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: 0.0104 AC: 1589AN: 152258Hom.: 34 Cov.: 33
GnomAD3 exomes AF: 0.00271 AC: 675AN: 249504Hom.: 10 AF XY: 0.00179 AC XY: 242AN XY: 135378
GnomAD4 exome AF: 0.00106 AC: 1550AN: 1460412Hom.: 36 Cov.: 32 AF XY: 0.000885 AC XY: 643AN XY: 726520
GnomAD4 genome AF: 0.0104 AC: 1590AN: 152376Hom.: 34 Cov.: 33 AF XY: 0.0102 AC XY: 762AN XY: 74512
ClinVar
Submissions by phenotype
not provided Benign:3
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ADAMTS13: BP4, BS1, BS2 -
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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