chr7-157182194-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014671.3(UBE3C):c.857C>T(p.Ala286Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000805 in 1,613,944 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014671.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBE3C | NM_014671.3 | c.857C>T | p.Ala286Val | missense_variant | Exon 8 of 23 | ENST00000348165.10 | NP_055486.2 | |
UBE3C | XM_047421072.1 | c.794C>T | p.Ala265Val | missense_variant | Exon 8 of 23 | XP_047277028.1 | ||
UBE3C | XM_005249564.5 | c.782C>T | p.Ala261Val | missense_variant | Exon 7 of 22 | XP_005249621.1 | ||
UBE3C | XM_047421073.1 | c.857C>T | p.Ala286Val | missense_variant | Exon 8 of 16 | XP_047277029.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBE3C | ENST00000348165.10 | c.857C>T | p.Ala286Val | missense_variant | Exon 8 of 23 | 1 | NM_014671.3 | ENSP00000309198.8 | ||
UBE3C | ENST00000389103.4 | c.728C>T | p.Ala243Val | missense_variant | Exon 6 of 9 | 5 | ENSP00000373755.4 |
Frequencies
GnomAD3 genomes AF: 0.0000525 AC: 8AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251238Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135784
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461694Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727140
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152250Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.857C>T (p.A286V) alteration is located in exon 8 (coding exon 8) of the UBE3C gene. This alteration results from a C to T substitution at nucleotide position 857, causing the alanine (A) at amino acid position 286 to be replaced by a valine (V). 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