15-20534621-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001145004.2(GOLGA6L6):c.1813C>A(p.Gln605Lys) 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 -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 119256Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000409 AC: 4AN: 977548Hom.: 0 Cov.: 36 AF XY: 0.00000210 AC XY: 1AN XY: 476828
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 119256Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 58374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1891C>A (p.Q631K) alteration is located in exon 8 (coding exon 8) of the GOLGA6L6 gene. This alteration results from a C to A substitution at nucleotide position 1891, causing the glutamine (Q) at amino acid position 631 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