14-90875205-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_004755.4(RPS6KA5):c.1992C>G(p.Ile664Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,459,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004755.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249500Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134894
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1459638Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 2AN XY: 726190
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1992C>G (p.I664M) alteration is located in exon 15 (coding exon 15) of the RPS6KA5 gene. This alteration results from a C to G substitution at nucleotide position 1992, causing the isoleucine (I) at amino acid position 664 to be replaced by a methionine (M). 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