rs750610248
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3PP5
The NM_138576.4(BCL11B):c.1323T>G(p.Asn441Lys) variant causes a missense change involving the alteration of a non-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 Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N441I) has been classified as Uncertain significance.
Frequency
Consequence
NM_138576.4 missense
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 |
---|---|---|---|---|---|---|---|
BCL11B | NM_138576.4 | c.1323T>G | p.Asn441Lys | missense_variant | 4/4 | ENST00000357195.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCL11B | ENST00000357195.8 | c.1323T>G | p.Asn441Lys | missense_variant | 4/4 | 1 | NM_138576.4 | A2 | |
BCL11B | ENST00000345514.2 | c.1110T>G | p.Asn370Lys | missense_variant | 3/3 | 1 | P4 | ||
BCL11B | ENST00000443726.2 | c.741T>G | p.Asn247Lys | missense_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Immunodeficiency 49 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 28, 2018 | - - |
Combined immunodeficiency Pathogenic:1
Pathogenic, no assertion criteria provided | research | Puck Laboratory, University of California, San Francisco | Mar 01, 2016 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at