11-110255294-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 1P and 7B. PP3BP4_ModerateBS1_SupportingBS2
The NM_002906.4(RDX):āc.790G>Cā(p.Ala264Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00016 in 1,521,524 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002906.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152004Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000297 AC: 74AN: 249290Hom.: 0 AF XY: 0.000371 AC XY: 50AN XY: 134914
GnomAD4 exome AF: 0.000161 AC: 221AN: 1369402Hom.: 2 Cov.: 24 AF XY: 0.000194 AC XY: 133AN XY: 686588
GnomAD4 genome AF: 0.000145 AC: 22AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Variant classified as Uncertain Significance - Favor Benign. The p.Ala264Pro var iant in RDX has not been previously reported in individuals with hearing loss, b ut has been identified in 0.2% (34/15102) of South Asian chromosomes by the Exom e Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs20103165 0). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tool s and conservation analyses do not provide strong support for or against an impa ct to the protein. In summary, while the clinical significance of the p.Ala264Pr o variant is uncertain, these data suggest that it is more likely to be benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at