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NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 6, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000598781.2

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)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000710050GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Dec 6, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000710050.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q177X variant in the BCL11A gene has been reported previously as a de novo variant in an individual with moderate intellectual disability, microcephaly, strabismus, and dysmorphic features (Dias et al., 2016). This variant is predicted to cause loss of normal protein function through protein truncation as the last 659 amino acids of the protein are lost. The Q177X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q177X as a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023