chr16-1979819-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_172167.3(NOXO1):āc.671G>Cā(p.Arg224Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000147 in 1,565,724 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_172167.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOXO1 | ENST00000356120.9 | c.671G>C | p.Arg224Pro | missense_variant | Exon 6 of 8 | 1 | NM_172167.3 | ENSP00000348435.4 | ||
TBL3 | ENST00000568546.6 | c.*1134C>G | 3_prime_UTR_variant | Exon 22 of 22 | 1 | NM_006453.3 | ENSP00000454836.1 |
Frequencies
GnomAD3 genomes AF: 0.000263 AC: 40AN: 152280Hom.: 1 Cov.: 34
GnomAD3 exomes AF: 0.000518 AC: 91AN: 175792Hom.: 1 AF XY: 0.000472 AC XY: 45AN XY: 95302
GnomAD4 exome AF: 0.000134 AC: 190AN: 1413326Hom.: 3 Cov.: 32 AF XY: 0.000132 AC XY: 92AN XY: 699432
GnomAD4 genome AF: 0.000262 AC: 40AN: 152398Hom.: 1 Cov.: 34 AF XY: 0.000295 AC XY: 22AN XY: 74522
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at