16-16261533-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001004067.4(NOMO3):c.1252C>T(p.Arg418Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000111 in 1,447,370 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001004067.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000710 AC: 1AN: 140888Hom.: 0 Cov.: 27
GnomAD3 exomes AF: 0.0000302 AC: 6AN: 198726Hom.: 1 AF XY: 0.0000370 AC XY: 4AN XY: 107996
GnomAD4 exome AF: 0.0000111 AC: 16AN: 1447370Hom.: 0 Cov.: 30 AF XY: 0.0000125 AC XY: 9AN XY: 720126
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000710 AC: 1AN: 140888Hom.: 0 Cov.: 27 AF XY: 0.0000146 AC XY: 1AN XY: 68504
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1252C>T (p.R418C) alteration is located in exon 12 (coding exon 12) of the NOMO3 gene. This alteration results from a C to T substitution at nucleotide position 1252, causing the arginine (R) at amino acid position 418 to be replaced by a cysteine (C). 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