rs151021715
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BS1BS2
The NM_021942.6(TRAPPC11):c.2388A>C(p.Gly796Gly) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00181 in 1,613,410 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_021942.6 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00118 AC: 180AN: 152204Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00149 AC: 373AN: 251094Hom.: 0 AF XY: 0.00150 AC XY: 203AN XY: 135690
GnomAD4 exome AF: 0.00188 AC: 2740AN: 1461088Hom.: 2 Cov.: 32 AF XY: 0.00179 AC XY: 1299AN XY: 726696
GnomAD4 genome AF: 0.00118 AC: 179AN: 152322Hom.: 1 Cov.: 33 AF XY: 0.00121 AC XY: 90AN XY: 74488
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. -
TRAPPC11: BP4, BP7 -
Autosomal recessive limb-girdle muscular dystrophy type R18 Benign:2
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not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at