rs771175890
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002906.4(RDX):c.119G>T(p.Arg40Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000958 in 1,461,608 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002906.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251348Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135852
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461608Hom.: 0 Cov.: 30 AF XY: 0.00000688 AC XY: 5AN XY: 727102
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The p.Arg40Leu variant in RDX has not been previously reported in individuals wi th hearing loss. This variant has been identified in 6/11536 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs771175890). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational pred iction tools and conservation analyses do not provide strong support for or agai nst an impact to the protein. In summary, the clinical significance of the p.Ar g40Leu variant is uncertain. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at