12-113078082-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004416.3(DTX1):c.918C>G(p.Ser306Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000215 in 1,397,682 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004416.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DTX1 | NM_004416.3 | c.918C>G | p.Ser306Arg | missense_variant | Exon 3 of 10 | ENST00000548759.2 | NP_004407.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151260Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000160 AC: 2AN: 1246422Hom.: 0 Cov.: 31 AF XY: 0.00000327 AC XY: 2AN XY: 611428
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151260Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 73834
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.918C>G (p.S306R) alteration is located in exon 2 (coding exon 2) of the DTX1 gene. This alteration results from a C to G substitution at nucleotide position 918, causing the serine (S) at amino acid position 306 to be replaced by an arginine (R). 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