17-50561527-A-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_018896.5(CACNA1G):āc.68A>Cā(p.Asn23Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000202 in 1,537,494 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_018896.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1G | ENST00000359106.10 | c.68A>C | p.Asn23Thr | missense_variant | Exon 1 of 38 | 1 | NM_018896.5 | ENSP00000352011.5 | ||
CACNA1G | ENST00000507510.6 | c.68A>C | p.Asn23Thr | missense_variant | Exon 1 of 37 | 1 | ENSP00000423112.2 |
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151850Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000223 AC: 3AN: 134676Hom.: 0 AF XY: 0.0000271 AC XY: 2AN XY: 73704
GnomAD4 exome AF: 0.0000202 AC: 28AN: 1385644Hom.: 0 Cov.: 32 AF XY: 0.0000263 AC XY: 18AN XY: 683806
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151850Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74160
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.68A>C (p.N23T) alteration is located in exon 1 (coding exon 1) of the CACNA1G gene. This alteration results from a A to C substitution at nucleotide position 68, causing the asparagine (N) at amino acid position 23 to be replaced by a threonine (T). 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