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NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys) AND Combined immunodeficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000241534.1

Allele description [Variation Report for NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys)]

NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys)

Gene:
BCL11B:BCL11 transcription factor B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.2
Genomic location:
Preferred name:
NM_138576.4(BCL11B):c.1323T>G (p.Asn441Lys)
HGVS:
  • NC_000014.9:g.99175513A>C
  • NG_027894.1:g.100973T>G
  • NM_001282237.2:c.1320T>G
  • NM_001282238.2:c.1107T>G
  • NM_022898.3:c.1110T>G
  • NM_138576.4:c.1323T>GMANE SELECT
  • NP_001269166.1:p.Asn440Lys
  • NP_001269167.1:p.Asn369Lys
  • NP_075049.1:p.Asn370Lys
  • NP_612808.1:p.Asn441Lys
  • NC_000014.8:g.99641850A>C
  • NM_138576.3:c.1323T>G
Protein change:
N369K; ASN441LYS
Links:
OMIM: 606558.0001; dbSNP: rs750610248
NCBI 1000 Genomes Browser:
rs750610248
Molecular consequence:
  • NM_001282237.2:c.1320T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282238.2:c.1107T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022898.3:c.1110T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138576.4:c.1323T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Combined immunodeficiency
Synonyms:
Congenital combined immunodeficiency; Combined T and B cell immunodeficiency
Identifiers:
MONDO: MONDO:0015131; MedGen: C2711630; Human Phenotype Ontology: HP:0005387

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000297993Puck Laboratory, University of California, San Francisco

See additional submitters

no assertion criteria provided
Pathogenic
(Mar 1, 2016) 		de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not provided1not providedresearch

Citations

PubMed

Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation.

Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, Mollenauer M, Srinivasan R, Brenner SE, Mulder A, Claas FH, Weiss A, Puck JM.

J Clin Immunol. 2015 Feb;35(2):135-46. doi: 10.1007/s10875-014-0125-1. Epub 2015 Jan 28.

PubMed [citation]
PMID:
25627829
PMCID:
PMC4352191

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM.

N Engl J Med. 2016 Dec 1;375(22):2165-2176.

PubMed [citation]
PMID:
27959755
PMCID:
PMC5215776

Details of each submission

From Puck Laboratory, University of California, San Francisco, SCV000297993.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1Bloodnot provided1not provided1not provided

Last Updated: Sep 1, 2024