chr14-94100772-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 5P and 4B. PVS1_StrongPP5BS2
The NM_206949.3(IFI27L1):c.61+1G>A variant causes a splice donor, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00101 in 1,613,638 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Likely risk allele (no stars).
Frequency
Consequence
NM_206949.3 splice_donor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000842 AC: 128AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00159 AC: 398AN: 250540Hom.: 1 AF XY: 0.00211 AC XY: 286AN XY: 135490
GnomAD4 exome AF: 0.00103 AC: 1498AN: 1461412Hom.: 11 Cov.: 33 AF XY: 0.00126 AC XY: 916AN XY: 727048
GnomAD4 genome AF: 0.000854 AC: 130AN: 152226Hom.: 0 Cov.: 32 AF XY: 0.00110 AC XY: 82AN XY: 74454
ClinVar
Submissions by phenotype
Susceptibility to severe COVID-19 Pathogenic:1
Likely risk allele, no assertion criteria provided | research | Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | Jul 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at