ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.956del (p.Pro319fs)
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
-
NM_001368894.2(PAX6):c.956del (p.Pro319fs)
Variation ID: 1328482 Accession: VCV001328482.2
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 11p13 11: 31793654 (GRCh38) [ NCBI UCSC ] 11: 31815202 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 18, 2021 Dec 18, 2021 Sep 11, 2020 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001368894.2:c.956del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Pro319fs frameshift NM_000280.6:c.914del NP_000271.1:p.Pro305fs frameshift NM_001127612.3:c.914del NP_001121084.1:p.Pro305fs frameshift NM_001258462.3:c.956del NP_001245391.1:p.Pro319fs frameshift NM_001258463.2:c.956del NP_001245392.1:p.Pro319fs frameshift NM_001258464.2:c.914del NP_001245393.1:p.Pro305fs frameshift NM_001258465.3:c.914del NP_001245394.1:p.Pro305fs frameshift NM_001310158.2:c.956del NP_001297087.1:p.Pro319fs frameshift NM_001310159.1:c.914del NP_001297088.1:p.Pro305fs frameshift NM_001310160.2:c.506del NP_001297089.1:p.Pro169fs frameshift NM_001310161.3:c.506del NP_001297090.1:p.Pro169fs frameshift NM_001368887.2:c.914del NP_001355816.1:p.Pro305fs frameshift NM_001368888.2:c.914del NP_001355817.1:p.Pro305fs frameshift NM_001368889.2:c.914del NP_001355818.1:p.Pro305fs frameshift NM_001368890.2:c.914del NP_001355819.1:p.Pro305fs frameshift NM_001368891.2:c.914del NP_001355820.1:p.Pro305fs frameshift NM_001368892.2:c.956del NP_001355821.1:p.Pro319fs frameshift NM_001368893.2:c.956del NP_001355822.1:p.Pro319fs frameshift NM_001368899.2:c.506del NP_001355828.1:p.Pro169fs frameshift NM_001368900.2:c.506del NP_001355829.1:p.Pro169fs frameshift NM_001368901.2:c.506del NP_001355830.1:p.Pro169fs frameshift NM_001368902.2:c.506del NP_001355831.1:p.Pro169fs frameshift NM_001368903.2:c.506del NP_001355832.1:p.Pro169fs frameshift NM_001368904.2:c.506del NP_001355833.1:p.Pro169fs frameshift NM_001368905.2:c.506del NP_001355834.1:p.Pro169fs frameshift NM_001368906.2:c.506del NP_001355835.1:p.Pro169fs frameshift NM_001368907.2:c.506del NP_001355836.1:p.Pro169fs frameshift NM_001368908.2:c.506del NP_001355837.1:p.Pro169fs frameshift NM_001368909.2:c.506del NP_001355838.1:p.Pro169fs frameshift NM_001368910.2:c.1157del NP_001355839.1:p.Pro386fs frameshift NM_001368911.2:c.959del NP_001355840.1:p.Pro320fs frameshift NM_001368912.2:c.956del NP_001355841.1:p.Pro319fs frameshift NM_001368913.2:c.956del NP_001355842.1:p.Pro319fs frameshift NM_001368914.2:c.956del NP_001355843.1:p.Pro319fs frameshift NM_001368915.2:c.914del NP_001355844.1:p.Pro305fs frameshift NM_001368916.2:c.914del NP_001355845.1:p.Pro305fs frameshift NM_001368917.2:c.914del NP_001355846.1:p.Pro305fs frameshift NM_001368918.2:c.1031del NP_001355847.1:p.Pro344fs frameshift NM_001368919.2:c.1031del NP_001355848.1:p.Pro344fs frameshift NM_001368920.2:c.989del NP_001355849.1:p.Pro330fs frameshift NM_001368921.2:c.755del NP_001355850.1:p.Pro252fs frameshift NM_001368922.2:c.755del NP_001355851.1:p.Pro252fs frameshift NM_001368923.2:c.755del NP_001355852.1:p.Pro252fs frameshift NM_001368924.2:c.755del NP_001355853.1:p.Pro252fs frameshift NM_001368925.2:c.755del NP_001355854.1:p.Pro252fs frameshift NM_001368926.2:c.755del NP_001355855.1:p.Pro252fs frameshift NM_001368927.2:c.755del NP_001355856.1:p.Pro252fs frameshift NM_001368928.2:c.713del NP_001355857.1:p.Pro238fs frameshift NM_001368929.2:c.506del NP_001355858.1:p.Pro169fs frameshift NM_001368930.2:c.311del NP_001355859.1:p.Pro104fs frameshift NM_001604.6:c.956del NP_001595.2:p.Pro319fs frameshift NR_160916.2:n.1295del non-coding transcript variant NR_160917.2:n.1300del non-coding transcript variant NC_000011.10:g.31793655del NC_000011.9:g.31815203del NG_008679.1:g.29308del LRG_720:g.29308del - Protein change
- P104fs, P169fs, P238fs, P252fs, P305fs, P319fs, P320fs, P330fs, P344fs, P386fs
- Other names
- -
- Canonical SPDI
- NC_000011.10:31793653:GG:G
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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. |
|||
PAX6 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
669 | 871 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (1) |
criteria provided, single submitter
|
Sep 11, 2020 | RCV001795880.2 |
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
Help
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
Help
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. |
|
---|---|---|---|---|---|
Pathogenic
(Sep 11, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Aniridia 1
Affected status: yes
Allele origin:
maternal
|
Institute of Human Genetics, Cologne University
Accession: SCV002037205.1
First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
|
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 rs2134588361 ...
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.