chr2-233681970-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_019077.3(UGT1A7):c.33C>T(p.Pro11=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,790 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. P11P) has been classified as Benign.
Frequency
Consequence
NM_019077.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UGT1A7 | NM_019077.3 | c.33C>T | p.Pro11= | synonymous_variant | 1/5 | ENST00000373426.4 | |
UGT1A10 | NM_019075.4 | c.855+44593C>T | intron_variant | ENST00000344644.10 | |||
UGT1A8 | NM_019076.5 | c.855+63408C>T | intron_variant | ENST00000373450.5 | |||
UGT1A9 | NM_021027.3 | c.855+9181C>T | intron_variant | ENST00000354728.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UGT1A7 | ENST00000373426.4 | c.33C>T | p.Pro11= | synonymous_variant | 1/5 | 1 | NM_019077.3 | P1 | |
UGT1A10 | ENST00000344644.10 | c.855+44593C>T | intron_variant | 1 | NM_019075.4 | P1 | |||
UGT1A9 | ENST00000354728.5 | c.855+9181C>T | intron_variant | 1 | NM_021027.3 | P1 | |||
UGT1A8 | ENST00000373450.5 | c.855+63408C>T | intron_variant | 1 | NM_019076.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250826Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135502
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461790Hom.: 0 Cov.: 72 AF XY: 0.00000275 AC XY: 2AN XY: 727184
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at