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NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn) AND Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 2021
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:
RCV001788503.2

Allele description [Variation Report for NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)]

NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)

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.2507G>A (p.Ser836Asn)
HGVS:
  • NC_000014.9:g.99174329C>T
  • NG_027894.1:g.102157G>A
  • NM_001282237.2:c.2504G>A
  • NM_001282238.2:c.2291G>A
  • NM_022898.3:c.2294G>A
  • NM_138576.4:c.2507G>AMANE SELECT
  • NP_001269166.1:p.Ser835Asn
  • NP_001269167.1:p.Ser764Asn
  • NP_075049.1:p.Ser765Asn
  • NP_612808.1:p.Ser836Asn
  • NC_000014.8:g.99640666C>T
Protein change:
S764N
Links:
dbSNP: rs2139752892
NCBI 1000 Genomes Browser:
rs2139752892
Molecular consequence:
  • NM_001282237.2:c.2504G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282238.2:c.2291G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022898.3:c.2294G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138576.4:c.2507G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Synonyms:
BCL11B-related BAFopathy
Identifiers:
MONDO: MONDO:0060763; MedGen: C4748152; OMIM: 618092

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001712158Pediatric Genetics Clinic, Sheba Medical Center
no assertion criteria provided
Likely pathogenic
(May 13, 2021) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Details of each submission

From Pediatric Genetics Clinic, Sheba Medical Center, SCV001712158.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Jan 19, 2025