11-118371609-A-G
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS1
The NM_001204077.2(UBE4A):āc.504A>Gā(p.Ala168Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000247 in 1,613,942 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001204077.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBE4A | ENST00000252108.8 | c.504A>G | p.Ala168Ala | synonymous_variant | Exon 5 of 20 | 1 | NM_001204077.2 | ENSP00000252108.4 | ||
UBE4A | ENST00000431736.6 | c.504A>G | p.Ala168Ala | synonymous_variant | Exon 5 of 20 | 1 | ENSP00000387362.2 |
Frequencies
GnomAD3 genomes AF: 0.000854 AC: 130AN: 152230Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000350 AC: 88AN: 251088Hom.: 1 AF XY: 0.000302 AC XY: 41AN XY: 135726
GnomAD4 exome AF: 0.000183 AC: 268AN: 1461594Hom.: 1 Cov.: 30 AF XY: 0.000180 AC XY: 131AN XY: 727104
GnomAD4 genome AF: 0.000853 AC: 130AN: 152348Hom.: 1 Cov.: 32 AF XY: 0.000765 AC XY: 57AN XY: 74504
ClinVar
Submissions by phenotype
not provided Benign:1
UBE4A: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at