chr1-209600071-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020439.3(CAMK1G):c.181C>T(p.Arg61Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000196 in 1,613,782 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020439.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 27AN: 152158Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251382Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135870
GnomAD4 exome AF: 0.000198 AC: 290AN: 1461624Hom.: 0 Cov.: 30 AF XY: 0.000177 AC XY: 129AN XY: 727130
GnomAD4 genome AF: 0.000177 AC: 27AN: 152158Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.181C>T (p.R61W) alteration is located in exon 3 (coding exon 2) of the CAMK1G gene. This alteration results from a C to T substitution at nucleotide position 181, causing the arginine (R) at amino acid position 61 to be replaced by a tryptophan (W). 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