chr18-34129984-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_003787.5(NOL4):c.301C>T(p.Arg101Trp) variant causes a missense change. The variant allele was found at a frequency of 0.00000417 in 1,440,064 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R101Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_003787.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOL4 | NM_003787.5 | c.301C>T | p.Arg101Trp | missense_variant | 2/11 | ENST00000261592.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOL4 | ENST00000261592.10 | c.301C>T | p.Arg101Trp | missense_variant | 2/11 | 1 | NM_003787.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000843 AC: 2AN: 237344Hom.: 0 AF XY: 0.00000777 AC XY: 1AN XY: 128740
GnomAD4 exome AF: 0.00000417 AC: 6AN: 1440064Hom.: 0 Cov.: 31 AF XY: 0.00000140 AC XY: 1AN XY: 716310
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Oct 01, 2022 | NOL4: PP3 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at