16-67174368-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM2BP4_StrongBS2
The ENST00000568146.1(NOL3):c.199G>A(p.Gly67Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000351 in 1,422,752 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
ENST00000568146.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NOL3 | NM_001276309.3 | c.199G>A | p.Gly67Ser | missense_variant | 2/4 | ENST00000564992.2 | NP_001263238.1 | |
NOL3 | XM_047434851.1 | c.385G>A | p.Gly129Ser | missense_variant | 3/5 | XP_047290807.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOL3 | ENST00000564992.2 | c.199G>A | p.Gly67Ser | missense_variant | 2/4 | 2 | NM_001276309.3 | ENSP00000457720 | P2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000110 AC: 2AN: 181122Hom.: 0 AF XY: 0.0000100 AC XY: 1AN XY: 99544
GnomAD4 exome AF: 0.00000351 AC: 5AN: 1422752Hom.: 0 Cov.: 32 AF XY: 0.00000426 AC XY: 3AN XY: 705050
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | Aug 28, 2023 | Variant summary: NOL3 c.199G>A (p.Gly67Ser) results in a non-conservative amino acid change located in the CARD domain (IPR001315) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.1e-05 in 181122 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.199G>A in individuals affected with Myoclonus, Familial, 1 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at