12-124912698-A-G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_021009.7(UBC):c.1074T>C(p.Arg358Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00628 in 1,599,596 control chromosomes in the GnomAD database, including 146 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_021009.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBC | ENST00000339647.6 | c.1074T>C | p.Arg358Arg | synonymous_variant | Exon 2 of 2 | 1 | NM_021009.7 | ENSP00000344818.5 | ||
UBC | ENST00000536769.1 | c.1074T>C | p.Arg358Arg | synonymous_variant | Exon 1 of 1 | 6 | ENSP00000441543.1 | |||
UBC | ENST00000538617.5 | c.452-518T>C | intron_variant | Intron 3 of 3 | 5 | ENSP00000443053.1 |
Frequencies
GnomAD3 genomes AF: 0.0126 AC: 1740AN: 138342Hom.: 19 Cov.: 25
GnomAD3 exomes AF: 0.00801 AC: 2012AN: 251044Hom.: 24 AF XY: 0.00727 AC XY: 987AN XY: 135680
GnomAD4 exome AF: 0.00569 AC: 8314AN: 1461166Hom.: 128 Cov.: 38 AF XY: 0.00556 AC XY: 4041AN XY: 726912
GnomAD4 genome AF: 0.0126 AC: 1738AN: 138430Hom.: 18 Cov.: 25 AF XY: 0.0124 AC XY: 837AN XY: 67278
ClinVar
Submissions by phenotype
not provided Benign:3
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See Variant Classification Assertion Criteria. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at