rs880844
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001320042.1(ISCU):c.*888G>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 0.251 in 1,391,868 control chromosomes in the GnomAD database, including 47,265 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001320042.1 3_prime_UTR
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: 0.199 AC: 30283AN: 152064Hom.: 3870 Cov.: 32
GnomAD4 exome AF: 0.258 AC: 319501AN: 1239686Hom.: 43395 Cov.: 28 AF XY: 0.261 AC XY: 156373AN XY: 600028
GnomAD4 genome AF: 0.199 AC: 30283AN: 152182Hom.: 3870 Cov.: 32 AF XY: 0.205 AC XY: 15273AN XY: 74386
ClinVar
Submissions by phenotype
not provided Benign:2
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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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at