16-1218419-G-A
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_021098.3(CACNA1H):c.5655G>A(p.Ala1885=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000731 in 1,554,192 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. A1885A) has been classified as Likely benign.
Frequency
Consequence
NM_021098.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1H | NM_021098.3 | c.5655G>A | p.Ala1885= | synonymous_variant | 33/35 | ENST00000348261.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1H | ENST00000348261.11 | c.5655G>A | p.Ala1885= | synonymous_variant | 33/35 | 1 | NM_021098.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.000782 AC: 119AN: 152188Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000854 AC: 137AN: 160384Hom.: 0 AF XY: 0.000846 AC XY: 72AN XY: 85108
GnomAD4 exome AF: 0.000725 AC: 1017AN: 1401886Hom.: 1 Cov.: 33 AF XY: 0.000688 AC XY: 476AN XY: 691832
GnomAD4 genome AF: 0.000781 AC: 119AN: 152306Hom.: 0 Cov.: 34 AF XY: 0.000779 AC XY: 58AN XY: 74476
ClinVar
Submissions by phenotype
Idiopathic generalized epilepsy;C4310756:Hyperaldosteronism, familial, type IV Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at