11-64361902-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_003942.3(RPS6KA4):c.806C>T(p.Ala269Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000496 in 1,612,966 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 -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000276 AC: 42AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249554Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135288
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1460760Hom.: 0 Cov.: 32 AF XY: 0.0000261 AC XY: 19AN XY: 726722
GnomAD4 genome AF: 0.000276 AC: 42AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.000269 AC XY: 20AN XY: 74404
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.806C>T (p.A269V) alteration is located in exon 8 (coding exon 8) of the RPS6KA4 gene. This alteration results from a C to T substitution at nucleotide position 806, causing the alanine (A) at amino acid position 269 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