16-730425-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_022493.3(CIAO3):c.1423C>T(p.Arg475Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000574 in 1,601,756 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022493.3 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: 0.0000985 AC: 15AN: 152238Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000871 AC: 21AN: 241176Hom.: 0 AF XY: 0.0000455 AC XY: 6AN XY: 131756
GnomAD4 exome AF: 0.0000531 AC: 77AN: 1449518Hom.: 1 Cov.: 32 AF XY: 0.0000485 AC XY: 35AN XY: 721622
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152238Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1423C>T (p.R475W) alteration is located in exon 11 (coding exon 11) of the NARFL gene. This alteration results from a C to T substitution at nucleotide position 1423, causing the arginine (R) at amino acid position 475 to be replaced by a tryptophan (W). 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