rs779701414
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The ENST00000397163.8(CAPN3):c.633G>A(p.Lys211=) variant causes a splice region, synonymous change. The variant allele was found at a frequency of 0.0000103 in 1,461,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000397163.8 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAPN3 | NM_000070.3 | c.633G>A | p.Lys211= | splice_region_variant, synonymous_variant | 5/24 | ENST00000397163.8 | NP_000061.1 | |
CAPN3 | NM_024344.2 | c.633G>A | p.Lys211= | splice_region_variant, synonymous_variant | 5/23 | NP_077320.1 | ||
CAPN3 | NM_173087.2 | c.633G>A | p.Lys211= | splice_region_variant, synonymous_variant | 5/21 | NP_775110.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CAPN3 | ENST00000397163.8 | c.633G>A | p.Lys211= | splice_region_variant, synonymous_variant | 5/24 | 1 | NM_000070.3 | ENSP00000380349 | P2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251472Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135904
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461624Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727132
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at