14-90873703-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_004755.4(RPS6KA5):c.2089C>G(p.Pro697Ala) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000372 in 1,614,024 control chromosomes in the GnomAD database, including 1 homozygotes. 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 Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152200Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251306Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135810
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1461824Hom.: 1 Cov.: 31 AF XY: 0.0000523 AC XY: 38AN XY: 727220
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152200Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2089C>G (p.P697A) alteration is located in exon 16 (coding exon 16) of the RPS6KA5 gene. This alteration results from a C to G substitution at nucleotide position 2089, causing the proline (P) at amino acid position 697 to be replaced by an alanine (A). 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