19-13298647-GGCCCTCGCCCTC-GGCCCTCGCCCTCGCCCTCGCCCTC
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001127222.2(CACNA1A):c.2985_2986insGAGGGCGAGGGC(p.Glu992_Gly995dup) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000033 in 1,517,336 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G995G) has been classified as Likely benign.
Frequency
Consequence
NM_001127222.2 inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1A | NM_001127222.2 | c.2985_2986insGAGGGCGAGGGC | p.Glu992_Gly995dup | inframe_insertion | 19/47 | ENST00000360228.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1A | ENST00000360228.11 | c.2985_2986insGAGGGCGAGGGC | p.Glu992_Gly995dup | inframe_insertion | 19/47 | 1 | NM_001127222.2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 151922Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000875 AC: 1AN: 114332Hom.: 0 AF XY: 0.0000160 AC XY: 1AN XY: 62386
GnomAD4 exome AF: 0.00000293 AC: 4AN: 1365414Hom.: 0 Cov.: 32 AF XY: 0.00000446 AC XY: 3AN XY: 673334
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 151922Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74186
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at