6-123337680-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_006073.4(TRDN):c.1370-11C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.178 in 1,409,608 control chromosomes in the GnomAD database, including 30,454 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006073.4 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: 0.185 AC: 28076AN: 151812Hom.: 3550 Cov.: 32
GnomAD3 exomes AF: 0.249 AC: 32103AN: 129056Hom.: 5123 AF XY: 0.256 AC XY: 17534AN XY: 68620
GnomAD4 exome AF: 0.177 AC: 222199AN: 1257678Hom.: 26903 Cov.: 21 AF XY: 0.183 AC XY: 114115AN XY: 622224
GnomAD4 genome AF: 0.185 AC: 28091AN: 151930Hom.: 3551 Cov.: 32 AF XY: 0.198 AC XY: 14671AN XY: 74246
ClinVar
Submissions by phenotype
not specified Benign:5
1370-11C>A in intron 21 of TRDN: This variant is not expected to have clinical s ignificance because it has been identified in 15.0% (794/5284) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs9401658). -
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Catecholaminergic polymorphic ventricular tachycardia 1 Benign:1
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Catecholaminergic polymorphic ventricular tachycardia 5 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at