rs281875288
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PM5PP3
The NM_139027.6(ADAMTS13):c.1045C>A(p.Arg349Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000385 in 1,559,654 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R349C) has been classified as Pathogenic.
Frequency
Consequence
NM_139027.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ADAMTS13 | NM_139027.6 | c.1045C>A | p.Arg349Ser | missense_variant | 9/29 | ENST00000355699.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADAMTS13 | ENST00000355699.7 | c.1045C>A | p.Arg349Ser | missense_variant | 9/29 | 1 | NM_139027.6 | A2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152266Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000118 AC: 2AN: 169582Hom.: 0 AF XY: 0.0000223 AC XY: 2AN XY: 89630
GnomAD4 exome AF: 0.00000355 AC: 5AN: 1407388Hom.: 0 Cov.: 31 AF XY: 0.00000576 AC XY: 4AN XY: 694772
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152266Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at