15-20534384-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001145004.2(GOLGA6L6):c.2050G>A(p.Glu684Lys) 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_001145004.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000271 AC: 36AN: 133084Hom.: 0 Cov.: 18
GnomAD3 exomes AF: 0.0000610 AC: 8AN: 131236Hom.: 0 AF XY: 0.0000847 AC XY: 6AN XY: 70814
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000291 AC: 37AN: 1271214Hom.: 0 Cov.: 29 AF XY: 0.0000365 AC XY: 23AN XY: 630030
GnomAD4 genome AF: 0.000270 AC: 36AN: 133204Hom.: 0 Cov.: 18 AF XY: 0.000308 AC XY: 20AN XY: 64900
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2128G>A (p.E710K) alteration is located in exon 8 (coding exon 8) of the GOLGA6L6 gene. This alteration results from a G to A substitution at nucleotide position 2128, causing the glutamic acid (E) at amino acid position 710 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