rs375344827
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP6_Very_StrongBS1
The NM_017827.4(SARS2):c.393+149delA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000599 in 1,599,288 control chromosomes in the GnomAD database, including 2 homozygotes. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_017827.4 intron
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: 0.00291 AC: 443AN: 151986Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000801 AC: 181AN: 226062Hom.: 0 AF XY: 0.000611 AC XY: 75AN XY: 122662
GnomAD4 exome AF: 0.000355 AC: 514AN: 1447186Hom.: 1 Cov.: 32 AF XY: 0.000321 AC XY: 231AN XY: 719088
GnomAD4 genome AF: 0.00292 AC: 444AN: 152102Hom.: 1 Cov.: 33 AF XY: 0.00295 AC XY: 219AN XY: 74342
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. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at