rs1060504834
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 3P and 3B. PM2PP2BP4BP6_Moderate
The ENST00000266039.7(CACNA2D2):c.3211C>T(p.Pro1071Ser) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.00000205 in 1,460,472 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/14 in silico tools predict a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
ENST00000266039.7 missense, splice_region
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNA2D2 | NM_006030.4 | c.3209-4C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000424201.7 | |||
LOC127898564 | NR_183066.1 | n.835-1323G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNA2D2 | ENST00000424201.7 | c.3209-4C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_006030.4 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000815 AC: 2AN: 245478Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133922
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460472Hom.: 0 Cov.: 34 AF XY: 0.00000138 AC XY: 1AN XY: 726530
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Early infantile epileptic encephalopathy with suppression bursts Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 03, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at