chr12-109097769-G-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBS2_Supporting
The NM_080911.3(UNG):c.90G>T(p.Gly30=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000495 in 1,413,198 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 Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. G30G) has been classified as Likely benign.
Frequency
Consequence
NM_080911.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNG | NM_080911.3 | c.90G>T | p.Gly30= | synonymous_variant | 1/7 | ENST00000242576.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNG | ENST00000242576.7 | c.90G>T | p.Gly30= | synonymous_variant | 1/7 | 1 | NM_080911.3 | P1 | |
UNG | ENST00000540158.1 | n.91G>T | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000592 AC: 1AN: 169004Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 91732
GnomAD4 exome AF: 0.00000495 AC: 7AN: 1413198Hom.: 0 Cov.: 31 AF XY: 0.00000429 AC XY: 3AN XY: 698864
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Hyper-IgM syndrome type 5 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 14, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at