rs2228645
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_201596.3(CACNB2):c.1701C>A(p.Tyr567Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,610 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. Synonymous variant affecting the same amino acid position (i.e. Y567Y) has been classified as Benign.
Frequency
Consequence
NM_201596.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CACNB2 | NM_201596.3 | c.1701C>A | p.Tyr567Ter | stop_gained | 14/14 | ENST00000324631.13 | |
CACNB2 | NM_201590.3 | c.1539C>A | p.Tyr513Ter | stop_gained | 13/13 | ENST00000377329.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CACNB2 | ENST00000324631.13 | c.1701C>A | p.Tyr567Ter | stop_gained | 14/14 | 1 | NM_201596.3 | ||
CACNB2 | ENST00000377329.10 | c.1539C>A | p.Tyr513Ter | stop_gained | 13/13 | 1 | NM_201590.3 | ||
ENST00000425669.1 | n.377-143G>T | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151816Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461794Hom.: 0 Cov.: 36 AF XY: 0.00000275 AC XY: 2AN XY: 727190
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151816Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74142
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at