9-133459117-C-A
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The ENST00000355699.7(ADAMTS13):c.4053C>A(p.Thr1351=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.333 in 1,611,808 control chromosomes in the GnomAD database, including 94,356 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Synonymous variant affecting the same amino acid position (i.e. T1351T) has been classified as Likely benign.
Frequency
Consequence
ENST00000355699.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ADAMTS13 | NM_139027.6 | c.4053C>A | p.Thr1351= | synonymous_variant | 29/29 | ENST00000355699.7 | NP_620596.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADAMTS13 | ENST00000355699.7 | c.4053C>A | p.Thr1351= | synonymous_variant | 29/29 | 1 | NM_139027.6 | ENSP00000347927 | A2 |
Frequencies
GnomAD3 genomes AF: 0.254 AC: 38544AN: 151778Hom.: 6079 Cov.: 32
GnomAD3 exomes AF: 0.312 AC: 77425AN: 248506Hom.: 13091 AF XY: 0.316 AC XY: 42575AN XY: 134790
GnomAD4 exome AF: 0.341 AC: 498385AN: 1459912Hom.: 88272 Cov.: 47 AF XY: 0.342 AC XY: 248228AN XY: 726162
GnomAD4 genome AF: 0.254 AC: 38565AN: 151896Hom.: 6084 Cov.: 32 AF XY: 0.254 AC XY: 18863AN XY: 74228
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jan 31, 2024 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Upshaw-Schulman syndrome Benign:2
Benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Aug 18, 2021 | - - |
Benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Three Vessel Coronary Disease Uncertain:1
Uncertain significance, no assertion criteria provided | clinical testing | Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital | - | - - |
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at