17-10681101-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM2BP4_StrongBP6_ModerateBS1
The NM_004589.4(SCO1):c.*18G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000213 in 1,614,148 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_004589.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00118 AC: 179AN: 152198Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000306 AC: 77AN: 251452Hom.: 2 AF XY: 0.000206 AC XY: 28AN XY: 135892
GnomAD4 exome AF: 0.000113 AC: 165AN: 1461832Hom.: 0 Cov.: 30 AF XY: 0.000102 AC XY: 74AN XY: 727214
GnomAD4 genome AF: 0.00118 AC: 179AN: 152316Hom.: 1 Cov.: 33 AF XY: 0.00109 AC XY: 81AN XY: 74470
ClinVar
Submissions by phenotype
not specified Benign:1
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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at