chr17-50561535-T-TCGGGGGC
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PVS1_StrongPM2
The NM_018896.5(CACNA1G):c.87_93dupGGGCCGG(p.Pro32GlyfsTer51) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000013 in 1,537,796 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018896.5 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1G | ENST00000359106.10 | c.87_93dupGGGCCGG | p.Pro32GlyfsTer51 | frameshift_variant | Exon 1 of 38 | 1 | NM_018896.5 | ENSP00000352011.5 | ||
CACNA1G | ENST00000507510.6 | c.87_93dupGGGCCGG | p.Pro32GlyfsTer51 | frameshift_variant | Exon 1 of 37 | 1 | ENSP00000423112.2 |
Frequencies
GnomAD3 genomes AF: 0.00000660 AC: 1AN: 151522Hom.: 0 Cov.: 31
GnomAD4 exome AF: 7.21e-7 AC: 1AN: 1386274Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 684134
GnomAD4 genome AF: 0.00000660 AC: 1AN: 151522Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74004
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at