chr19-13207349-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP2BP4
The NM_001127222.2(CACNA1A):āc.7485C>Gā(p.His2495Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000256 in 1,560,282 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 Uncertain significance (ā ).
Frequency
Consequence
NM_001127222.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1A | NM_001127222.2 | c.7485C>G | p.His2495Gln | missense_variant | 47/47 | ENST00000360228.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1A | ENST00000360228.11 | c.7485C>G | p.His2495Gln | missense_variant | 47/47 | 1 | NM_001127222.2 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151978Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000213 AC: 3AN: 1408196Hom.: 0 Cov.: 30 AF XY: 0.00000143 AC XY: 1AN XY: 698438
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152086Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74358
ClinVar
Submissions by phenotype
Developmental and epileptic encephalopathy, 42 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Neuberg Centre For Genomic Medicine, NCGM | - | The missense variant c.7485C>G (p.His2495Gln) in CACNA1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.His2495Gln variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid His at position 2495 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.