19-5785606-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_020175.3(DUS3L):c.1748G>A(p.Cys583Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000561 in 1,604,084 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020175.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DUS3L | NM_020175.3 | c.1748G>A | p.Cys583Tyr | missense_variant | Exon 11 of 13 | ENST00000309061.12 | NP_064560.2 | |
DUS3L | NM_001161619.2 | c.1022G>A | p.Cys341Tyr | missense_variant | Exon 10 of 12 | NP_001155091.1 | ||
DUS3L | XM_017027020.2 | c.1706G>A | p.Cys569Tyr | missense_variant | Exon 10 of 12 | XP_016882509.1 | ||
DUS3L | XM_047439111.1 | c.*193G>A | downstream_gene_variant | XP_047295067.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DUS3L | ENST00000309061.12 | c.1748G>A | p.Cys583Tyr | missense_variant | Exon 11 of 13 | 1 | NM_020175.3 | ENSP00000311977.5 | ||
ENSG00000267157 | ENST00000586012.1 | c.14G>A | p.Cys5Tyr | missense_variant | Exon 1 of 3 | 3 | ENSP00000466514.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000551 AC: 8AN: 1451838Hom.: 0 Cov.: 32 AF XY: 0.00000416 AC XY: 3AN XY: 721396
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1748G>A (p.C583Y) alteration is located in exon 11 (coding exon 11) of the DUS3L gene. This alteration results from a G to A substitution at nucleotide position 1748, causing the cysteine (C) at amino acid position 583 to be replaced by a tyrosine (Y). 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