X-84106963-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014496.5(RPS6KA6):c.1189G>A(p.Glu397Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000277 in 1,081,786 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014496.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPS6KA6 | NM_014496.5 | c.1189G>A | p.Glu397Lys | missense_variant | 14/22 | ENST00000262752.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPS6KA6 | ENST00000262752.5 | c.1189G>A | p.Glu397Lys | missense_variant | 14/22 | 1 | NM_014496.5 | P1 | |
RPS6KA6 | ENST00000620340.4 | c.1189G>A | p.Glu397Lys | missense_variant | 14/22 | 5 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome AF: 0.00000277 AC: 3AN: 1081786Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 349200
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2021 | The c.1189G>A (p.E397K) alteration is located in exon 14 (coding exon 14) of the RPS6KA6 gene. This alteration results from a G to A substitution at nucleotide position 1189, causing the glutamic acid (E) at amino acid position 397 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.