15-20534482-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001145004.2(GOLGA6L6):āc.1952T>Cā(p.Ile651Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000347 in 138,350 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
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: 0.000333 AC: 46AN: 138250Hom.: 1 Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000295 AC: 39AN: 1319796Hom.: 0 Cov.: 37 AF XY: 0.0000323 AC XY: 21AN XY: 650458
GnomAD4 genome AF: 0.000347 AC: 48AN: 138350Hom.: 1 Cov.: 30 AF XY: 0.000327 AC XY: 22AN XY: 67332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2030T>C (p.I677T) alteration is located in exon 8 (coding exon 8) of the GOLGA6L6 gene. This alteration results from a T to C substitution at nucleotide position 2030, causing the isoleucine (I) at amino acid position 677 to be replaced by a threonine (T). 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