1-10105570-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP2PP3_Moderate
The NM_001105562.3(UBE4B):c.635T>C(p.Met212Thr) variant causes a missense 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. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M212L) has been classified as Uncertain significance.
Frequency
Consequence
NM_001105562.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBE4B | NM_001105562.3 | c.635T>C | p.Met212Thr | missense_variant | 6/28 | ENST00000343090.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBE4B | ENST00000343090.11 | c.635T>C | p.Met212Thr | missense_variant | 6/28 | 1 | NM_001105562.3 | ||
UBE4B | ENST00000253251.12 | c.635T>C | p.Met212Thr | missense_variant | 6/27 | 1 | P1 | ||
UBE4B | ENST00000672724.1 | c.635T>C | p.Met212Thr | missense_variant | 6/29 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 04, 2022 | The c.635T>C (p.M212T) alteration is located in exon 6 (coding exon 6) of the UBE4B gene. This alteration results from a T to C substitution at nucleotide position 635, causing the methionine (M) at amino acid position 212 to be replaced by a threonine (T). 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