ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.517del (p.Arg173fs)
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.517del (p.Arg173fs)
Variation ID: 800438 Accession: VCV000800438.2
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 11p13 11: 31800739 (GRCh38) [ NCBI UCSC ] 11: 31822287 (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 Dec 23, 2019 Dec 23, 2019 Aug 15, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001368894.2:c.517del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Arg173fs frameshift NM_000280.6:c.475del NP_000271.1:p.Arg159fs frameshift NM_001127612.3:c.475del NP_001121084.1:p.Arg159fs frameshift NM_001258462.3:c.517del NP_001245391.1:p.Arg173fs frameshift NM_001258463.2:c.517del NP_001245392.1:p.Arg173fs frameshift NM_001258464.2:c.475del NP_001245393.1:p.Arg159fs frameshift NM_001258465.3:c.475del NP_001245394.1:p.Arg159fs frameshift NM_001310158.2:c.517del NP_001297087.1:p.Arg173fs frameshift NM_001310159.1:c.475del NP_001297088.1:p.Arg159fs frameshift NM_001310160.2:c.67del NP_001297089.1:p.Arg23fs frameshift NM_001310161.3:c.67del NP_001297090.1:p.Arg23fs frameshift NM_001368887.2:c.475del NP_001355816.1:p.Arg159fs frameshift NM_001368888.2:c.475del NP_001355817.1:p.Arg159fs frameshift NM_001368889.2:c.475del NP_001355818.1:p.Arg159fs frameshift NM_001368890.2:c.475del NP_001355819.1:p.Arg159fs frameshift NM_001368891.2:c.475del NP_001355820.1:p.Arg159fs frameshift NM_001368892.2:c.517del NP_001355821.1:p.Arg173fs frameshift NM_001368893.2:c.517del NP_001355822.1:p.Arg173fs frameshift NM_001368899.2:c.67del NP_001355828.1:p.Arg23fs frameshift NM_001368900.2:c.67del NP_001355829.1:p.Arg23fs frameshift NM_001368901.2:c.67del NP_001355830.1:p.Arg23fs frameshift NM_001368902.2:c.67del NP_001355831.1:p.Arg23fs frameshift NM_001368903.2:c.67del NP_001355832.1:p.Arg23fs frameshift NM_001368904.2:c.67del NP_001355833.1:p.Arg23fs frameshift NM_001368905.2:c.67del NP_001355834.1:p.Arg23fs frameshift NM_001368906.2:c.67del NP_001355835.1:p.Arg23fs frameshift NM_001368907.2:c.67del NP_001355836.1:p.Arg23fs frameshift NM_001368908.2:c.67del NP_001355837.1:p.Arg23fs frameshift NM_001368909.2:c.67del NP_001355838.1:p.Arg23fs frameshift NM_001368910.2:c.718del NP_001355839.1:p.Arg240fs frameshift NM_001368911.2:c.520del NP_001355840.1:p.Arg174fs frameshift NM_001368912.2:c.517del NP_001355841.1:p.Arg173fs frameshift NM_001368913.2:c.517del NP_001355842.1:p.Arg173fs frameshift NM_001368914.2:c.517del NP_001355843.1:p.Arg173fs frameshift NM_001368915.2:c.475del NP_001355844.1:p.Arg159fs frameshift NM_001368916.2:c.475del NP_001355845.1:p.Arg159fs frameshift NM_001368917.2:c.475del NP_001355846.1:p.Arg159fs frameshift NM_001368918.2:c.592del NP_001355847.1:p.Arg198fs frameshift NM_001368919.2:c.592del NP_001355848.1:p.Arg198fs frameshift NM_001368920.2:c.550del NP_001355849.1:p.Arg184fs frameshift NM_001368921.2:c.316del NP_001355850.1:p.Arg106fs frameshift NM_001368922.2:c.316del NP_001355851.1:p.Arg106fs frameshift NM_001368923.2:c.316del NP_001355852.1:p.Arg106fs frameshift NM_001368924.2:c.316del NP_001355853.1:p.Arg106fs frameshift NM_001368925.2:c.316del NP_001355854.1:p.Arg106fs frameshift NM_001368926.2:c.316del NP_001355855.1:p.Arg106fs frameshift NM_001368927.2:c.316del NP_001355856.1:p.Arg106fs frameshift NM_001368928.2:c.274del NP_001355857.1:p.Arg92fs frameshift NM_001368929.2:c.67del NP_001355858.1:p.Arg23fs frameshift NM_001604.6:c.517del NP_001595.2:p.Arg173fs frameshift NR_160916.2:n.939del non-coding transcript variant NR_160917.2:n.944del non-coding transcript variant NC_000011.10:g.31800741del NC_000011.9:g.31822289del NG_008679.1:g.22223del LRG_720:g.22223del LRG_720t1:c.475del - Protein change
- R106fs, R23fs, R174fs, R159fs, R173fs, R198fs, R92fs, R184fs, R240fs
- Other names
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- Canonical SPDI
- NC_000011.10:31800738:GGG:GG
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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 |
668 | 870 |
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
Help
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) |
no assertion criteria provided
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Aug 15, 2019 | RCV000984415.2 |
Submissions - Germline
Classification
Help
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
Help
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
(Aug 15, 2019)
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no assertion criteria provided
Method: clinical testing
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Aniridia 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
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Wessex Regional Genetics Laboratory, Salisbury District Hospital
Accession: SCV001055768.1
First in ClinVar: Dec 23, 2019 Last updated: Dec 23, 2019 |
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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 rs1592530379 ...
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.