U.S. flag

An official website of the United States government

NM_022893.4(BCL11A):c.385+2T>C AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 6, 2017
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:
RCV000623290.2

Allele description [Variation Report for NM_022893.4(BCL11A):c.385+2T>C]

NM_022893.4(BCL11A):c.385+2T>C

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.385+2T>C
HGVS:
  • NC_000002.12:g.60545969A>G
  • NG_011968.1:g.12530T>C
  • NM_001363864.1:c.385+2T>C
  • NM_001365609.1:c.385+2T>C
  • NM_001405708.1:c.385+2T>C
  • NM_001405709.1:c.385+2T>C
  • NM_001405710.1:c.385+2T>C
  • NM_001405711.1:c.385+2T>C
  • NM_001405712.1:c.385+2T>C
  • NM_001405713.1:c.229+2T>C
  • NM_001405714.1:c.229+2T>C
  • NM_001405715.1:c.229+2T>C
  • NM_001405716.1:c.229+2T>C
  • NM_001405717.1:c.229+2T>C
  • NM_001405718.1:c.229+2T>C
  • NM_001405719.1:c.385+2T>C
  • NM_001405720.1:c.-41+2T>C
  • NM_001405721.1:c.-41+2T>C
  • NM_001405722.1:c.229+2T>C
  • NM_001405723.1:c.229+2T>C
  • NM_001405724.1:c.229+2T>C
  • NM_001405725.1:c.-291+2T>C
  • NM_001405726.1:c.-291+2T>C
  • NM_001405727.1:c.-148+2T>C
  • NM_001405728.1:c.-148+2T>C
  • NM_001405729.1:c.229+2T>C
  • NM_001405730.1:c.385+2T>C
  • NM_001405731.1:c.-291+2T>C
  • NM_001405732.1:c.385+2T>C
  • NM_001405733.1:c.385+2T>C
  • NM_001405734.1:c.229+2T>C
  • NM_001405735.1:c.229+2T>C
  • NM_001405736.1:c.229+2T>C
  • NM_018014.4:c.385+2T>C
  • NM_022893.4:c.385+2T>CMANE SELECT
  • NM_138559.2:c.385+2T>C
  • NC_000002.11:g.60773104A>G
  • NM_022893.3:c.385+2T>C
Links:
dbSNP: rs1553352926
NCBI 1000 Genomes Browser:
rs1553352926
Molecular consequence:
  • NM_001363864.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001365609.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405708.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405709.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405710.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405711.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405712.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405713.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405714.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405715.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405716.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405717.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405718.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405719.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405720.1:c.-41+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405721.1:c.-41+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405722.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405723.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405724.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405725.1:c.-291+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405726.1:c.-291+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405727.1:c.-148+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405728.1:c.-148+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405729.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405730.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405731.1:c.-291+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405732.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405733.1:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405734.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405735.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001405736.1:c.229+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_018014.4:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_022893.4:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_138559.2:c.385+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000742631Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Pathogenic
(Oct 6, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Unknowngermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000742631.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Unknown1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024