7-129835010-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003344.4(UBE2H):c.479G>T(p.Gly160Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,613,966 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_003344.4 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 |
---|---|---|---|---|---|---|---|---|
UBE2H | NM_003344.4 | c.479G>T | p.Gly160Val | missense_variant | Exon 7 of 7 | ENST00000355621.8 | NP_003335.1 | |
UBE2H | NM_182697.3 | c.386G>T | p.Gly129Val | missense_variant | Exon 5 of 5 | NP_874356.1 | ||
UBE2H | NM_001202498.2 | c.269G>T | p.Gly90Val | missense_variant | Exon 7 of 7 | NP_001189427.1 | ||
UBE2H | XM_047420796.1 | c.269G>T | p.Gly90Val | missense_variant | Exon 8 of 8 | XP_047276752.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461868Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727236
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.479G>T (p.G160V) alteration is located in exon 7 (coding exon 7) of the UBE2H gene. This alteration results from a G to T substitution at nucleotide position 479, causing the glycine (G) at amino acid position 160 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