16-1210376-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_021098.3(CACNA1H):c.3852C>T(p.Arg1284=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,552,204 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R1284R) has been classified as Likely benign.
Frequency
Consequence
NM_021098.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1H | NM_021098.3 | c.3852C>T | p.Arg1284= | synonymous_variant | 19/35 | ENST00000348261.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1H | ENST00000348261.11 | c.3852C>T | p.Arg1284= | synonymous_variant | 19/35 | 1 | NM_021098.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000199 AC: 3AN: 150698Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000170 AC: 3AN: 176064Hom.: 0 AF XY: 0.0000316 AC XY: 3AN XY: 95068
GnomAD4 exome AF: 0.00000928 AC: 13AN: 1401390Hom.: 0 Cov.: 32 AF XY: 0.0000130 AC XY: 9AN XY: 693532
GnomAD4 genome AF: 0.0000199 AC: 3AN: 150814Hom.: 0 Cov.: 26 AF XY: 0.0000272 AC XY: 2AN XY: 73586
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at