chrX-154400848-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_006013.5(RPL10):āc.639C>Gā(p.His213Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000835 in 1,209,747 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 21 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ā ).
Frequency
Consequence
NM_006013.5 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: 0.0000267 AC: 3AN: 112366Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34504
GnomAD3 exomes AF: 0.0000353 AC: 6AN: 170149Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 58375
GnomAD4 exome AF: 0.0000893 AC: 98AN: 1097381Hom.: 0 Cov.: 31 AF XY: 0.0000579 AC XY: 21AN XY: 362879
GnomAD4 genome AF: 0.0000267 AC: 3AN: 112366Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34504
ClinVar
Submissions by phenotype
not provided Uncertain:2
- -
RPL10: PP2 -
Autism, susceptibility to, X-linked 5 Other:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at