2-27781660-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_022128.3(RBKS):c.924G>C(p.Gln308His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000409 in 1,613,780 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_022128.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RBKS | ENST00000302188.8 | c.924G>C | p.Gln308His | missense_variant | Exon 8 of 8 | 1 | NM_022128.3 | ENSP00000306817.3 | ||
RBKS | ENST00000449378.1 | n.*1851G>C | non_coding_transcript_exon_variant | Exon 9 of 9 | 1 | ENSP00000413789.1 | ||||
RBKS | ENST00000449378.1 | n.*1851G>C | 3_prime_UTR_variant | Exon 9 of 9 | 1 | ENSP00000413789.1 | ||||
MRPL33 | ENST00000448427.1 | n.42-912C>G | intron_variant | Intron 2 of 5 | 4 | ENSP00000407385.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 251188Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135770
GnomAD4 exome AF: 0.0000424 AC: 62AN: 1461688Hom.: 0 Cov.: 30 AF XY: 0.0000275 AC XY: 20AN XY: 727160
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152092Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74276
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.924G>C (p.Q308H) alteration is located in exon 8 (coding exon 8) of the RBKS gene. This alteration results from a G to C substitution at nucleotide position 924, causing the glutamine (Q) at amino acid position 308 to be replaced by a histidine (H). 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