6-42573957-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001363705.2(UBR2):c.302G>A(p.Arg101His) variant causes a missense change. The variant allele was found at a frequency of 0.000013 in 1,611,198 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 Uncertain significance (★).
Frequency
Consequence
NM_001363705.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBR2 | NM_001363705.2 | c.302G>A | p.Arg101His | missense_variant | Exon 2 of 47 | ENST00000372901.2 | NP_001350634.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBR2 | ENST00000372901.2 | c.302G>A | p.Arg101His | missense_variant | Exon 2 of 47 | 5 | NM_001363705.2 | ENSP00000361992.1 | ||
UBR2 | ENST00000372899.6 | c.302G>A | p.Arg101His | missense_variant | Exon 2 of 47 | 1 | ENSP00000361990.1 | |||
UBR2 | ENST00000372903.6 | c.302G>A | p.Arg101His | missense_variant | Exon 2 of 12 | 1 | ENSP00000361994.2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000322 AC: 8AN: 248130Hom.: 0 AF XY: 0.0000521 AC XY: 7AN XY: 134328
GnomAD4 exome AF: 0.0000110 AC: 16AN: 1458932Hom.: 0 Cov.: 31 AF XY: 0.0000152 AC XY: 11AN XY: 725850
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152266Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74460
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.302G>A (p.R101H) alteration is located in exon 2 (coding exon 2) of the UBR2 gene. This alteration results from a G to A substitution at nucleotide position 302, causing the arginine (R) at amino acid position 101 to be replaced by a histidine (H). 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