11-64368484-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PVS1_ModerateBS2
The NM_001006944.2(RPS6KA4):c.1201-2A>G variant causes a splice acceptor, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000018 in 1,554,662 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001006944.2 splice_acceptor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152076Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000106 AC: 17AN: 160220Hom.: 0 AF XY: 0.0000702 AC XY: 6AN XY: 85444
GnomAD4 exome AF: 0.0000135 AC: 19AN: 1402470Hom.: 0 Cov.: 39 AF XY: 0.0000130 AC XY: 9AN XY: 692332
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152192Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74416
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1217A>G (p.Q406R) alteration is located in exon 11 (coding exon 11) of the RPS6KA4 gene. This alteration results from a A to G substitution at nucleotide position 1217, causing the glutamine (Q) at amino acid position 406 to be replaced by an arginine (R). 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