1-223752029-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001748.5(CAPN2):c.932A>G(p.Glu311Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000107 in 1,613,062 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001748.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CAPN2 | NM_001748.5 | c.932A>G | p.Glu311Gly | missense_variant | 8/21 | ENST00000295006.6 | |
CAPN2 | NM_001146068.2 | c.698A>G | p.Glu233Gly | missense_variant | 8/21 | ||
CAPN2 | XM_047431344.1 | c.932A>G | p.Glu311Gly | missense_variant | 8/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CAPN2 | ENST00000295006.6 | c.932A>G | p.Glu311Gly | missense_variant | 8/21 | 1 | NM_001748.5 | P1 | |
CAPN2 | ENST00000433674.6 | c.698A>G | p.Glu233Gly | missense_variant | 8/21 | 2 | |||
CAPN2 | ENST00000480581.1 | n.11A>G | non_coding_transcript_exon_variant | 1/4 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152104Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251054Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135698
GnomAD4 exome AF: 0.000116 AC: 169AN: 1460958Hom.: 0 Cov.: 29 AF XY: 0.000109 AC XY: 79AN XY: 726852
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152104Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 12, 2024 | The c.932A>G (p.E311G) alteration is located in exon 8 (coding exon 8) of the CAPN2 gene. This alteration results from a A to G substitution at nucleotide position 932, causing the glutamic acid (E) at amino acid position 311 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at