20-35280724-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_002212.4(EIF6):c.299G>A(p.Arg100Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000257 in 1,613,910 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002212.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000164 AC: 41AN: 250438Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135440
GnomAD4 exome AF: 0.000264 AC: 386AN: 1461626Hom.: 1 Cov.: 31 AF XY: 0.000263 AC XY: 191AN XY: 727078
GnomAD4 genome AF: 0.000190 AC: 29AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74466
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.299G>A (p.R100Q) alteration is located in exon 3 (coding exon 3) of the EIF6 gene. This alteration results from a G to A substitution at nucleotide position 299, causing the arginine (R) at amino acid position 100 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at