17-3883106-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032294.3(CAMKK1):c.584G>A(p.Arg195Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000013 in 1,613,640 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032294.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAMKK1 | NM_032294.3 | c.584G>A | p.Arg195Gln | missense_variant | 6/16 | ENST00000348335.7 | |
CAMKK1 | NM_172206.2 | c.665G>A | p.Arg222Gln | missense_variant | 6/16 | ||
CAMKK1 | NM_172207.3 | c.584G>A | p.Arg195Gln | missense_variant | 6/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAMKK1 | ENST00000348335.7 | c.584G>A | p.Arg195Gln | missense_variant | 6/16 | 1 | NM_032294.3 | P1 | |
CAMKK1 | ENST00000381769.6 | c.665G>A | p.Arg222Gln | missense_variant | 6/16 | 1 | |||
CAMKK1 | ENST00000158166.5 | c.584G>A | p.Arg195Gln | missense_variant | 6/16 | 1 | |||
CAMKK1 | ENST00000573483.1 | n.1292G>A | non_coding_transcript_exon_variant | 6/8 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251158Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135808
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1461496Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 727090
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 21, 2024 | The c.584G>A (p.R195Q) alteration is located in exon 6 (coding exon 5) of the CAMKK1 gene. This alteration results from a G to A substitution at nucleotide position 584, causing the arginine (R) at amino acid position 195 to be replaced by a glutamine (Q). 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