rs41314453
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_139027.6(ADAMTS13):c.2195C>T(p.Ala732Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0137 in 1,613,072 control chromosomes in the GnomAD database, including 165 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 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: 0.00982 AC: 1495AN: 152248Hom.: 11 Cov.: 33
GnomAD3 exomes AF: 0.00984 AC: 2460AN: 250056Hom.: 22 AF XY: 0.0101 AC XY: 1368AN XY: 135572
GnomAD4 exome AF: 0.0141 AC: 20633AN: 1460706Hom.: 154 Cov.: 32 AF XY: 0.0137 AC XY: 9948AN XY: 726664
GnomAD4 genome AF: 0.00981 AC: 1494AN: 152366Hom.: 11 Cov.: 33 AF XY: 0.00993 AC XY: 740AN XY: 74514
ClinVar
Submissions by phenotype
not provided Benign:3
ADAMTS13: BP4, BS1, BS2 -
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not specified Benign:2
p.Ala732Val in exon 18 of ADAMTS13: This variant is not expected to have clinica l significance because it has been identified 1.6% (1013/65004) of all chromosom es tested by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs41314453). While in vitro studies showed a decreased secretion of t he ADAMTS13 protein containing this variant, functional assays did not demonstra te decreased activity (Plaimauer 2006, Feng 2013). -
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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