22-30285682-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001037666.3(CASTOR1):c.928G>A(p.Glu310Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000383 in 1,566,356 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001037666.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CASTOR1 | ENST00000407689.8 | c.928G>A | p.Glu310Lys | missense_variant | Exon 9 of 9 | 1 | NM_001037666.3 | ENSP00000384183.4 | ||
ENSG00000248751 | ENST00000434291.5 | c.1381G>A | p.Glu461Lys | missense_variant | Exon 13 of 13 | 2 | ENSP00000401535.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000354 AC: 5AN: 1414214Hom.: 0 Cov.: 31 AF XY: 0.00000286 AC XY: 2AN XY: 699214
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152142Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.928G>A (p.E310K) alteration is located in exon 9 (coding exon 9) of the GATSL3 gene. This alteration results from a G to A substitution at nucleotide position 928, causing the glutamic acid (E) at amino acid position 310 to be replaced by a lysine (K). 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