chr17-3880384-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_032294.3(CAMKK1):c.758G>A(p.Arg253His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000116 in 1,461,708 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R253C) has been classified 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAMKK1 | NM_032294.3 | c.758G>A | p.Arg253His | missense_variant | 9/16 | ENST00000348335.7 | |
CAMKK1 | NM_172206.2 | c.839G>A | p.Arg280His | missense_variant | 9/16 | ||
CAMKK1 | NM_172207.3 | c.872G>A | p.Arg291His | missense_variant | 10/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAMKK1 | ENST00000348335.7 | c.758G>A | p.Arg253His | missense_variant | 9/16 | 1 | NM_032294.3 | P1 | |
CAMKK1 | ENST00000381769.6 | c.839G>A | p.Arg280His | missense_variant | 9/16 | 1 | |||
CAMKK1 | ENST00000158166.5 | c.872G>A | p.Arg291His | missense_variant | 10/16 | 1 | |||
CAMKK1 | ENST00000573483.1 | n.2345G>A | non_coding_transcript_exon_variant | 8/8 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250568Hom.: 1 AF XY: 0.0000295 AC XY: 4AN XY: 135608
GnomAD4 exome AF: 0.0000116 AC: 17AN: 1461708Hom.: 1 Cov.: 31 AF XY: 0.0000151 AC XY: 11AN XY: 727110
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at