16-1217937-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PP3_ModerateBS2
The NM_021098.3(CACNA1H):c.5342C>T(p.Pro1781Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000413 in 1,452,668 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P1781R) has been classified as Uncertain significance.
Frequency
Consequence
NM_021098.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1H | NM_021098.3 | c.5342C>T | p.Pro1781Leu | missense_variant | 32/35 | ENST00000348261.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1H | ENST00000348261.11 | c.5342C>T | p.Pro1781Leu | missense_variant | 32/35 | 1 | NM_021098.3 | P4 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome AF: 0.00000413 AC: 6AN: 1452668Hom.: 0 Cov.: 31 AF XY: 0.00000554 AC XY: 4AN XY: 721914
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at