rs529670544
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_003344.4(UBE2H):āc.459G>Cā(p.Ala153Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A153A) has been classified as Likely benign.
Frequency
Consequence
NM_003344.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBE2H | NM_003344.4 | c.459G>C | p.Ala153Ala | synonymous_variant | Exon 7 of 7 | ENST00000355621.8 | NP_003335.1 | |
UBE2H | NM_182697.3 | c.366G>C | p.Ala122Ala | synonymous_variant | Exon 5 of 5 | NP_874356.1 | ||
UBE2H | NM_001202498.2 | c.249G>C | p.Ala83Ala | synonymous_variant | Exon 7 of 7 | NP_001189427.1 | ||
UBE2H | XM_047420796.1 | c.249G>C | p.Ala83Ala | synonymous_variant | Exon 8 of 8 | XP_047276752.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461864Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 727240
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.