NM_021098.3:c.827G>A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_021098.3(CACNA1H):c.827G>A(p.Arg276Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00056 in 1,601,618 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R276W) has been classified as Likely benign.
Frequency
Consequence
NM_021098.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNA1H | ENST00000348261.11 | c.827G>A | p.Arg276Gln | missense_variant | Exon 7 of 35 | 1 | NM_021098.3 | ENSP00000334198.7 | ||
CACNA1H | ENST00000565831.6 | c.827G>A | p.Arg276Gln | missense_variant | Exon 6 of 33 | 1 | ENSP00000455840.1 | |||
CACNA1H | ENST00000638323.1 | c.788G>A | p.Arg263Gln | missense_variant | Exon 7 of 35 | 5 | ENSP00000492267.1 | |||
CACNA1H | ENST00000639478.1 | n.827G>A | non_coding_transcript_exon_variant | Exon 7 of 35 | 5 | ENSP00000491945.1 | ||||
CACNA1H | ENST00000640028.1 | n.827G>A | non_coding_transcript_exon_variant | Exon 7 of 35 | 5 | ENSP00000491488.1 |
Frequencies
GnomAD3 genomes AF: 0.00317 AC: 482AN: 152156Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000679 AC: 159AN: 234252Hom.: 1 AF XY: 0.000594 AC XY: 76AN XY: 127998
GnomAD4 exome AF: 0.000286 AC: 415AN: 1449344Hom.: 3 Cov.: 32 AF XY: 0.000243 AC XY: 175AN XY: 719362
GnomAD4 genome AF: 0.00317 AC: 482AN: 152274Hom.: 3 Cov.: 32 AF XY: 0.00333 AC XY: 248AN XY: 74434
ClinVar
Submissions by phenotype
Idiopathic generalized epilepsy;C4310756:Hyperaldosteronism, familial, type IV Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at