16-4797486-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024589.3(ROGDI):āc.838A>Cā(p.Ser280Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,164 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S280G) has been classified as Uncertain significance.
Frequency
Consequence
NM_024589.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ROGDI | NM_024589.3 | c.838A>C | p.Ser280Arg | missense_variant | 11/11 | ENST00000322048.12 | |
ROGDI | XM_006720947.5 | c.859A>C | p.Ser287Arg | missense_variant | 11/11 | ||
ROGDI | XM_047434636.1 | c.589A>C | p.Ser197Arg | missense_variant | 9/9 | ||
ROGDI | NR_046480.2 | n.845A>C | non_coding_transcript_exon_variant | 10/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROGDI | ENST00000322048.12 | c.838A>C | p.Ser280Arg | missense_variant | 11/11 | 1 | NM_024589.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248822Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134800
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461164Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726894
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at