chr17-67056092-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000727.4(CACNG1):c.490C>T(p.Arg164Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000049 in 1,613,254 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000727.4 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: 0.00000658 AC: 1AN: 151976Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000876 AC: 22AN: 251146Hom.: 0 AF XY: 0.0000958 AC XY: 13AN XY: 135756
GnomAD4 exome AF: 0.0000534 AC: 78AN: 1461278Hom.: 1 Cov.: 31 AF XY: 0.0000674 AC XY: 49AN XY: 726950
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151976Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74214
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.490C>T (p.R164C) alteration is located in exon 4 (coding exon 4) of the CACNG1 gene. This alteration results from a C to T substitution at nucleotide position 490, causing the arginine (R) at amino acid position 164 to be replaced by a cysteine (C). 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