15-82342868-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001164465.3(GOLGA6L10):c.1477G>C(p.Gly493Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001164465.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L10 | ENST00000610657.2 | c.1477G>C | p.Gly493Arg | missense_variant | Exon 9 of 9 | 2 | NM_001164465.3 | ENSP00000479362.1 | ||
GOLGA6L10 | ENST00000621197.4 | c.1228G>C | p.Gly410Arg | missense_variant | Exon 10 of 10 | 5 | ENSP00000484254.2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 152196Hom.: 0 Cov.: 53 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000165 AC: 24AN: 1457768Hom.: 0 Cov.: 118 AF XY: 0.0000138 AC XY: 10AN XY: 725164
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152314Hom.: 0 Cov.: 53 AF XY: 0.00 AC XY: 0AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1348G>C (p.G450R) alteration is located in exon 9 (coding exon 9) of the GOLGA6L10 gene. This alteration results from a G to C substitution at nucleotide position 1348, causing the glycine (G) at amino acid position 450 to be replaced by an arginine (R). 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