11-64365370-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_003942.3(RPS6KA4):c.976C>G(p.Leu326Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000415 in 1,614,022 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003942.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152236Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000796 AC: 20AN: 251246Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135888
GnomAD4 exome AF: 0.0000397 AC: 58AN: 1461786Hom.: 0 Cov.: 31 AF XY: 0.0000426 AC XY: 31AN XY: 727192
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152236Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.976C>G (p.L326V) alteration is located in exon 9 (coding exon 9) of the RPS6KA4 gene. This alteration results from a C to G substitution at nucleotide position 976, causing the leucine (L) at amino acid position 326 to be replaced by a valine (V). 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