15-20534419-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001145004.2(GOLGA6L6):āc.2015T>Cā(p.Met672Thr) 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 -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 140AN: 115764Hom.: 0 Cov.: 21 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000110 AC: 136AN: 1238484Hom.: 0 Cov.: 31 AF XY: 0.000114 AC XY: 70AN XY: 614698
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00121 AC: 140AN: 115836Hom.: 0 Cov.: 21 AF XY: 0.00123 AC XY: 69AN XY: 55984
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