5-134741284-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001745.4(CAMLG):c.394C>T(p.Arg132Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000403 in 1,614,134 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001745.4 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: 0.000164 AC: 25AN: 152150Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000517 AC: 13AN: 251456Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135918
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461866Hom.: 0 Cov.: 32 AF XY: 0.0000248 AC XY: 18AN XY: 727246
GnomAD4 genome AF: 0.000164 AC: 25AN: 152268Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.394C>T (p.R132W) alteration is located in exon 2 (coding exon 2) of the CAMLG gene. This alteration results from a C to T substitution at nucleotide position 394, causing the arginine (R) at amino acid position 132 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