ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.11-218_565+80del
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_001368894.2(PAX6):c.11-218_565+80del
Variation ID: 974854 Accession: VCV000974854.3
- Type and length
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Deletion, 2,442 bp
- Location
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Cytogenetic: 11p13 11: 31800611-31803052 (GRCh38) [ NCBI UCSC ] 11: 31822159-31824600 (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 9, 2020 Sep 3, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001368894.2:c.11-218_565+80del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor splice donor NM_000280.6:c.11-218_523+80del splice acceptor splice donor NM_001127612.3:c.11-218_523+80del splice acceptor splice donor NM_001258462.3:c.11-218_565+80del splice acceptor splice donor NM_001258463.2:c.11-218_565+80del splice acceptor splice donor NM_001258464.2:c.11-218_523+80del splice acceptor splice donor NM_001258465.3:c.11-218_523+80del splice acceptor splice donor NM_001310158.2:c.11-218_565+80del splice acceptor splice donor NM_001310159.1:c.11-218_523+80del splice acceptor splice donor NM_001310160.2:c.-989_115+80del splice acceptor splice donor initiator codon variant NM_001310161.3:c.-440-218_115+80del splice acceptor splice donor initiator codon variant NM_001368887.2:c.11-218_523+80del splice acceptor splice donor NM_001368888.2:c.11-218_523+80del splice acceptor splice donor NM_001368889.2:c.11-218_523+80del splice acceptor splice donor NM_001368890.2:c.11-218_523+80del splice acceptor splice donor NM_001368891.2:c.11-218_523+80del splice acceptor splice donor NM_001368892.2:c.11-218_565+80del splice acceptor splice donor NM_001368893.2:c.11-218_565+80del splice acceptor splice donor NM_001368899.2:c.-398-218_115+80del splice acceptor splice donor initiator codon variant NM_001368900.2:c.-440-218_115+80del splice acceptor splice donor initiator codon variant NM_001368901.2:c.-398-218_115+80del splice acceptor splice donor initiator codon variant NM_001368902.2:c.-947_115+80del splice acceptor splice donor initiator codon variant NM_001368903.2:c.-658_115+80del splice acceptor splice donor initiator codon variant NM_001368904.2:c.-267-1276_115+80del splice acceptor splice donor initiator codon variant NM_001368905.2:c.-771-218_115+80del splice acceptor splice donor initiator codon variant NM_001368906.2:c.-398-218_115+80del splice acceptor splice donor initiator codon variant NM_001368907.2:c.-616_115+80del splice acceptor splice donor initiator codon variant NM_001368908.2:c.-440-218_115+80del splice acceptor splice donor initiator codon variant NM_001368909.2:c.-267-1276_115+80del splice acceptor splice donor initiator codon variant NM_001368910.2:c.254-218_766+80del splice acceptor splice donor NM_001368911.2:c.14-218_568+80del splice acceptor splice donor NM_001368912.2:c.11-218_565+80del splice acceptor splice donor NM_001368913.2:c.11-218_565+80del splice acceptor splice donor NM_001368914.2:c.11-218_565+80del splice acceptor splice donor NM_001368915.2:c.11-218_523+80del splice acceptor splice donor NM_001368916.2:c.11-218_523+80del splice acceptor splice donor NM_001368917.2:c.11-218_523+80del splice acceptor splice donor NM_001368918.2:c.11-218_640+80del splice acceptor splice donor NM_001368919.2:c.11-218_640+80del splice acceptor splice donor NM_001368920.2:c.11-218_598+80del splice acceptor splice donor NM_001368921.2:c.11-218_364+80del splice acceptor splice donor NM_001368922.2:c.11-218_364+80del splice acceptor splice donor NM_001368923.2:c.11-218_364+80del splice acceptor splice donor NM_001368924.2:c.11-218_364+80del splice acceptor splice donor NM_001368925.2:c.11-218_364+80del splice acceptor splice donor NM_001368926.2:c.11-218_364+80del splice acceptor splice donor NM_001368927.2:c.11-218_364+80del splice acceptor splice donor NM_001368928.2:c.11-218_322+80del splice acceptor splice donor NM_001368929.2:c.-658_115+80del splice acceptor splice donor initiator codon variant NM_001604.6:c.11-218_565+80del splice acceptor splice donor NC_000011.10:g.31800611_31803052del NC_000011.9:g.31822159_31824600del NG_008679.1:g.19910_22351del LRG_720:g.19910_22351del - Protein change
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- Other names
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- Canonical SPDI
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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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| PAX6 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
694 | 898 | |
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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| Pathogenic (1) |
criteria provided, single submitter
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- | RCV001251139.2 |
Submissions - Germline
| Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Aniridia 1
Affected status: yes
Allele origin:
germline
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Centogene AG - the Rare Disease Company
Accession: SCV001426636.2
First in ClinVar: Aug 09, 2020 Last updated: Sep 03, 2023 |
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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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. | Bertoli-Avella AM | European journal of human genetics : EJHG | 2021 | PMID: 32860008 |
Text-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024
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.