17-50561486-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_ModerateBP6BP7
The NM_018896.5(CACNA1G):āc.27C>Gā(p.Gly9Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000723 in 1,382,790 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_018896.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1G | ENST00000359106.10 | c.27C>G | p.Gly9Gly | synonymous_variant | Exon 1 of 38 | 1 | NM_018896.5 | ENSP00000352011.5 | ||
CACNA1G | ENST00000507510.6 | c.27C>G | p.Gly9Gly | synonymous_variant | Exon 1 of 37 | 1 | ENSP00000423112.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000749 AC: 1AN: 133544Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 73028
GnomAD4 exome AF: 7.23e-7 AC: 1AN: 1382790Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 682470
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at