7-143756073-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_178561.5(CTAGE6):c.1586G>A(p.Arg529His) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 10/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178561.5 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: 0.00 AC: 13AN: 67228Hom.: 0 Cov.: 8 FAILED QC
GnomAD3 exomes AF: 0.0000488 AC: 3AN: 61536Hom.: 0 AF XY: 0.0000962 AC XY: 3AN XY: 31188
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000321 AC: 31AN: 965350Hom.: 0 Cov.: 15 AF XY: 0.0000313 AC XY: 15AN XY: 479904
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000193 AC: 13AN: 67284Hom.: 0 Cov.: 8 AF XY: 0.0000993 AC XY: 3AN XY: 30218
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1586G>A (p.R529H) alteration is located in exon 1 (coding exon 1) of the CTAGE6 gene. This alteration results from a G to A substitution at nucleotide position 1586, causing the arginine (R) at amino acid position 529 to be replaced by a histidine (H). 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