6-83022557-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198920.3(UBE3D):c.742T>G(p.Trp248Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000962 in 1,570,226 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_198920.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBE3D | NM_198920.3 | c.742T>G | p.Trp248Gly | missense_variant | 7/10 | ENST00000369747.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBE3D | ENST00000369747.8 | c.742T>G | p.Trp248Gly | missense_variant | 7/10 | 1 | NM_198920.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000131 AC: 20AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000867 AC: 18AN: 207616Hom.: 0 AF XY: 0.0000973 AC XY: 11AN XY: 113080
GnomAD4 exome AF: 0.0000924 AC: 131AN: 1417914Hom.: 0 Cov.: 29 AF XY: 0.0000979 AC XY: 69AN XY: 704622
GnomAD4 genome ? AF: 0.000131 AC: 20AN: 152312Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 08, 2022 | The c.742T>G (p.W248G) alteration is located in exon 7 (coding exon 7) of the UBE3D gene. This alteration results from a T to G substitution at nucleotide position 742, causing the tryptophan (W) at amino acid position 248 to be replaced by a glycine (G). 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