chr16-733400-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_022493.3(CIAO3):c.721G>A(p.Val241Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000296 in 1,613,854 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CIAO3 | NM_022493.3 | c.721G>A | p.Val241Ile | missense_variant | 7/11 | ENST00000251588.7 | |
CIAO3 | NM_001304799.2 | c.415G>A | p.Val139Ile | missense_variant | 8/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CIAO3 | ENST00000251588.7 | c.721G>A | p.Val241Ile | missense_variant | 7/11 | 1 | NM_022493.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000250 AC: 38AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000295 AC: 74AN: 250650Hom.: 0 AF XY: 0.000317 AC XY: 43AN XY: 135792
GnomAD4 exome AF: 0.000300 AC: 439AN: 1461494Hom.: 0 Cov.: 31 AF XY: 0.000316 AC XY: 230AN XY: 727024
GnomAD4 genome AF: 0.000249 AC: 38AN: 152360Hom.: 0 Cov.: 33 AF XY: 0.000268 AC XY: 20AN XY: 74494
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2022 | The c.721G>A (p.V241I) alteration is located in exon 7 (coding exon 7) of the NARFL gene. This alteration results from a G to A substitution at nucleotide position 721, causing the valine (V) at amino acid position 241 to be replaced by an isoleucine (I). 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