17-66880656-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_145811.3(CACNG5):c.383C>T(p.Thr128Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000581 in 1,614,110 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145811.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CACNG5 | ENST00000533854.6 | c.383C>T | p.Thr128Met | missense_variant | Exon 4 of 6 | 2 | NM_145811.3 | ENSP00000436836.1 | ||
CACNG5 | ENST00000307139.4 | c.383C>T | p.Thr128Met | missense_variant | Exon 3 of 5 | 1 | ENSP00000303092.3 | |||
CACNG5 | ENST00000673855.1 | c.383C>T | p.Thr128Met | missense_variant | Exon 3 of 4 | ENSP00000501267.1 |
Frequencies
GnomAD3 genomes AF: 0.000447 AC: 68AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000517 AC: 130AN: 251480Hom.: 0 AF XY: 0.000537 AC XY: 73AN XY: 135916
GnomAD4 exome AF: 0.000594 AC: 869AN: 1461868Hom.: 0 Cov.: 31 AF XY: 0.000597 AC XY: 434AN XY: 727238
GnomAD4 genome AF: 0.000447 AC: 68AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.000376 AC XY: 28AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.383C>T (p.T128M) alteration is located in exon 3 (coding exon 3) of the CACNG5 gene. This alteration results from a C to T substitution at nucleotide position 383, causing the threonine (T) at amino acid position 128 to be replaced by a methionine (M). 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