15-20534396-A-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001145004.2(GOLGA6L6):āc.2038T>Gā(p.Trp680Gly) 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 not provided (no stars).
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: 0.108 AC: 5484AN: 50982Hom.: 0 Cov.: 7
GnomAD3 exomes AF: 0.00383 AC: 429AN: 111990Hom.: 0 AF XY: 0.00343 AC XY: 210AN XY: 61186
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0233 AC: 18019AN: 774024Hom.: 10 Cov.: 27 AF XY: 0.0225 AC XY: 8748AN XY: 389626
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.108 AC: 5487AN: 51038Hom.: 0 Cov.: 7 AF XY: 0.102 AC XY: 2534AN XY: 24848
ClinVar
Submissions by phenotype
not provided Other:1
GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at