ClinVar Genomic variation as it relates to human health
NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_022893.4(BCL11A):c.557T>G (p.Leu186Trp)
Variation ID: 2574572 Accession: VCV002574572.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p16.1 2: 60462355 (GRCh38) [ NCBI UCSC ] 2: 60689490 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Aug 6, 2023 Aug 5, 2023 Aug 1, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_022893.4:c.557T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_075044.2:p.Leu186Trp missense NM_001363864.1:c.455T>G NP_001350793.1:p.Leu152Trp missense NM_001365609.1:c.455T>G NP_001352538.1:p.Leu152Trp missense NM_001405708.1:c.557T>G NP_001392637.1:p.Leu186Trp missense NM_001405709.1:c.557T>G NP_001392638.1:p.Leu186Trp missense NM_001405710.1:c.557T>G NP_001392639.1:p.Leu186Trp missense NM_001405711.1:c.455T>G NP_001392640.1:p.Leu152Trp missense NM_001405712.1:c.455T>G NP_001392641.1:p.Leu152Trp missense NM_001405713.1:c.401T>G NP_001392642.1:p.Leu134Trp missense NM_001405714.1:c.401T>G NP_001392643.1:p.Leu134Trp missense NM_001405715.1:c.401T>G NP_001392644.1:p.Leu134Trp missense NM_001405716.1:c.401T>G NP_001392645.1:p.Leu134Trp missense NM_001405717.1:c.299T>G NP_001392646.1:p.Leu100Trp missense NM_001405718.1:c.299T>G NP_001392647.1:p.Leu100Trp missense NM_001405719.1:c.455T>G NP_001392648.1:p.Leu152Trp missense NM_001405720.1:c.224T>G NP_001392649.1:p.Leu75Trp missense NM_001405721.1:c.224T>G NP_001392650.1:p.Leu75Trp missense NM_001405722.1:c.401T>G NP_001392651.1:p.Leu134Trp missense NM_001405723.1:c.401T>G NP_001392652.1:p.Leu134Trp missense NM_001405724.1:c.299T>G NP_001392653.1:p.Leu100Trp missense NM_001405725.1:c.101T>G NP_001392654.1:p.Leu34Trp missense NM_001405726.1:c.101T>G NP_001392655.1:p.Leu34Trp missense NM_001405727.1:c.101T>G NP_001392656.1:p.Leu34Trp missense NM_001405728.1:c.101T>G NP_001392657.1:p.Leu34Trp missense NM_001405729.1:c.401T>G NP_001392658.1:p.Leu134Trp missense NM_001405730.1:c.557T>G NP_001392659.1:p.Leu186Trp missense NM_001405731.1:c.101T>G NP_001392660.1:p.Leu34Trp missense NM_001405732.1:c.557T>G NP_001392661.1:p.Leu186Trp missense NM_001405733.1:c.455T>G NP_001392662.1:p.Leu152Trp missense NM_001405734.1:c.401T>G NP_001392663.1:p.Leu134Trp missense NM_001405735.1:c.401T>G NP_001392664.1:p.Leu134Trp missense NM_001405736.1:c.299T>G NP_001392665.1:p.Leu100Trp missense NM_018014.4:c.557T>G NP_060484.2:p.Leu186Trp missense NM_138552.1:c.662T>G NP_612562.1:p.Leu221Trp missense NM_138559.2:c.557T>G NP_612569.1:p.Leu186Trp missense NR_175964.1:n.399T>G non-coding transcript variant NC_000002.12:g.60462355A>C NC_000002.11:g.60689490A>C NG_011968.1:g.96144T>G - Protein change
- L100W, L134W, L152W, L186W, L221W, L34W, L75W
- Other names
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- Canonical SPDI
- NC_000002.12:60462354:A:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BCL11A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
211 | 238 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Aug 1, 2023 | RCV003319150.1 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Uncertain significance
(Aug 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Dias-Logan syndrome
(Sporadic)
Affected status: unknown
Allele origin:
de novo
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Institute of Human Genetics, University of Goettingen
Accession: SCV004022308.1
First in ClinVar: Aug 05, 2023 Last updated: Aug 05, 2023 |
Comment:
The variant c.557T>G (p.(Leu186Trp)) in exon 4 of the BCL11A-gene is not found in the gnomAD database, it affects a highly conserved nucleotide, a highly … (more)
The variant c.557T>G (p.(Leu186Trp)) in exon 4 of the BCL11A-gene is not found in the gnomAD database, it affects a highly conserved nucleotide, a highly conserved amino acid within a protein domain and there is a small physicochemical difference between Leu and Trp. This variant has a pathogenic computational verdict based on in silico predictions algorithms and was found de novo in our patient. ACMG criteria used for classification: PS2_mod, PM2_supp, PP2, PP3. (less)
Clinical Features:
Microcephaly (present) , Delayed speech and language development (present) , Severe global developmental delay (present)
Sex: male
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Aug 13, 2023
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.