14-23042593-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001099780.2(PSMB11):c.368C>T(p.Pro123Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000244 in 1,614,062 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001099780.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PSMB11 | NM_001099780.2 | c.368C>T | p.Pro123Leu | missense_variant | 1/1 | ENST00000408907.5 | NP_001093250.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PSMB11 | ENST00000408907.5 | c.368C>T | p.Pro123Leu | missense_variant | 1/1 | NM_001099780.2 | ENSP00000386212 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000682 AC: 17AN: 249352Hom.: 0 AF XY: 0.0000665 AC XY: 9AN XY: 135298
GnomAD4 exome AF: 0.000258 AC: 377AN: 1461842Hom.: 1 Cov.: 32 AF XY: 0.000221 AC XY: 161AN XY: 727226
GnomAD4 genome AF: 0.000112 AC: 17AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2022 | The c.368C>T (p.P123L) alteration is located in exon 1 (coding exon 1) of the PSMB11 gene. This alteration results from a C to T substitution at nucleotide position 368, causing the proline (P) at amino acid position 123 to be replaced by a leucine (L). 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