19-53914545-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_031896.5(CACNG7):c.242C>T(p.Pro81Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,613,950 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_031896.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNG7 | ENST00000391767.6 | c.242C>T | p.Pro81Leu | missense_variant | Exon 3 of 6 | 5 | NM_031896.5 | ENSP00000375647.1 | ||
CACNG7 | ENST00000222212.6 | c.242C>T | p.Pro81Leu | missense_variant | Exon 2 of 5 | 1 | ENSP00000222212.2 | |||
CACNG7 | ENST00000391766.1 | c.242C>T | p.Pro81Leu | missense_variant | Exon 2 of 4 | 1 | ENSP00000375646.1 | |||
CACNG7 | ENST00000468076.5 | n.184-820C>T | intron_variant | Intron 1 of 2 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250400Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135418
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461870Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727240
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152080Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74288
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.242C>T (p.P81L) alteration is located in exon 2 (coding exon 2) of the CACNG7 gene. This alteration results from a C to T substitution at nucleotide position 242, causing the proline (P) at amino acid position 81 to be replaced by a leucine (L). 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