rs59052554
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_021098.3(CACNA1H):c.2759C>T(p.Thr920Met) variant causes a missense change. The variant allele was found at a frequency of 0.00259 in 1,574,574 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. T920T) 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 -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA1H | NM_021098.3 | c.2759C>T | p.Thr920Met | missense_variant | 12/35 | ENST00000348261.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA1H | ENST00000348261.11 | c.2759C>T | p.Thr920Met | missense_variant | 12/35 | 1 | NM_021098.3 | P4 |
Frequencies
GnomAD3 genomes AF: 0.00160 AC: 244AN: 152222Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.00225 AC: 429AN: 190264Hom.: 2 AF XY: 0.00222 AC XY: 227AN XY: 102242
GnomAD4 exome AF: 0.00269 AC: 3832AN: 1422234Hom.: 9 Cov.: 31 AF XY: 0.00261 AC XY: 1840AN XY: 703772
GnomAD4 genome AF: 0.00160 AC: 244AN: 152340Hom.: 2 Cov.: 33 AF XY: 0.00136 AC XY: 101AN XY: 74494
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Athena Diagnostics | Nov 01, 2018 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | Dec 02, 2016 | - - |
See cases Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | Jan 03, 2020 | ACMG classification criteria: BS1, BP1, BP4 - |
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