NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter) AND Dias-Logan syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 30, 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:: RCV000856831.1

Allele description [Variation Report for NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter)]

NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter)

Gene:

BCL11A:BCL11 transcription factor A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.1

Genomic location:

Preferred name:

NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter)

HGVS:

NC_000002.12:g.60462383G>A
NG_011968.1:g.96116C>T
NM_001363864.1:c.427C>T
NM_001365609.1:c.427C>T
NM_018014.4:c.529C>T
NM_022893.4:c.529C>TMANE SELECT
NM_138559.2:c.529C>T
NP_001350793.1:p.Gln143Ter
NP_001352538.1:p.Gln143Ter
NP_060484.2:p.Gln177Ter
NP_075044.2:p.Gln177Ter
NP_612569.1:p.Gln177Ter
NC_000002.11:g.60689518G>A
NM_022893.3:c.529C>T

Protein change:

Q143*; GLN177TER

Links:

OMIM: 606557.0004; dbSNP: rs1553403736

NCBI 1000 Genomes Browser:

rs1553403736

Molecular consequence:

NM_001363864.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001365609.1:c.427C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_018014.4:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_022893.4:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_138559.2:c.529C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Dias-Logan syndrome
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN; Intellectual developmental disorder with persistence of fetal hemoglobin
Identifiers:: MONDO: MONDO:0014914; MedGen: C4310833; OMIM: 617101

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000298228	OMIM	no assertion criteria provided	Pathogenic (Aug 30, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298228

OMIM

no assertion criteria provided

Pathogenic
(Aug 30, 2016)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME; DDD Study., et al.

Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub 2016 Jul 21.

PubMed [citation]

PMID:: 27453576
PMCID:: PMC4974071

Details of each submission

From OMIM, SCV000298228.36

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a girl with intellectual developmental disorder with persistence of fetal hemoglobin (617101), Dias et al. (2016) identified a de novo heterozygous c.529C-T transition (c.198C-A, NM_022893.3) in the BCL11A gene, resulting in a gln177-to-ter (Q177X) substitution. The mutation was found by exome sequencing. The findings were consistent with haploinsufficiency.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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