17-29615997-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_032854.4(CORO6):c.1241G>A(p.Arg414His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000555 in 1,586,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032854.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152218Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000197 AC: 4AN: 203326Hom.: 0 AF XY: 0.0000178 AC XY: 2AN XY: 112114
GnomAD4 exome AF: 0.0000586 AC: 84AN: 1434442Hom.: 0 Cov.: 32 AF XY: 0.0000647 AC XY: 46AN XY: 710848
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152336Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1241G>A (p.R414H) alteration is located in exon 9 (coding exon 9) of the CORO6 gene. This alteration results from a G to A substitution at nucleotide position 1241, causing the arginine (R) at amino acid position 414 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