chr11-122796911-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_032873.5(UBASH3B):c.1235G>T(p.Gly412Val) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032873.5 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBASH3B | NM_032873.5 | c.1235G>T | p.Gly412Val | missense_variant, splice_region_variant | 9/14 | ENST00000284273.6 | |
UBASH3B | NM_001363365.2 | c.1130G>T | p.Gly377Val | missense_variant, splice_region_variant | 9/14 | ||
UBASH3B | XM_005271712.4 | c.1319G>T | p.Gly440Val | missense_variant, splice_region_variant | 9/14 | ||
UBASH3B | XM_011543041.3 | c.1178G>T | p.Gly393Val | missense_variant, splice_region_variant | 9/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBASH3B | ENST00000284273.6 | c.1235G>T | p.Gly412Val | missense_variant, splice_region_variant | 9/14 | 1 | NM_032873.5 | P1 | |
ENST00000649590.1 | n.74-30862C>A | intron_variant, non_coding_transcript_variant | |||||||
UBASH3B | ENST00000530578.1 | n.179G>T | splice_region_variant, non_coding_transcript_exon_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 30, 2023 | The c.1235G>T (p.G412V) alteration is located in exon 9 (coding exon 9) of the UBASH3B gene. This alteration results from a G to T substitution at nucleotide position 1235, causing the glycine (G) at amino acid position 412 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
Publications
No publications associated with this variant yet.