ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.49_61del (p.Asn17fs)
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.49_61del (p.Asn17fs)
Variation ID: 2691814 Accession: VCV002691814.1
- Type and length
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Deletion, 13 bp
- Location
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Cytogenetic: 11p13 11: 31802784-31802796 (GRCh38) [ NCBI UCSC ] 11: 31824332-31824344 (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 Jul 15, 2024 Jul 15, 2024 Dec 25, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001368894.2:c.49_61del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Asn17fs frameshift NM_000280.5:c.49_61del NM_000280.6:c.49_61del NP_000271.1:p.Asn17fs frameshift NM_001127612.3:c.49_61del NP_001121084.1:p.Asn17fs frameshift NM_001258462.3:c.49_61del NP_001245391.1:p.Asn17fs frameshift NM_001258463.2:c.49_61del NP_001245392.1:p.Asn17fs frameshift NM_001258464.2:c.49_61del NP_001245393.1:p.Asn17fs frameshift NM_001258465.3:c.49_61del NP_001245394.1:p.Asn17fs frameshift NM_001310158.2:c.49_61del NP_001297087.1:p.Asn17fs frameshift NM_001310159.1:c.49_61del NP_001297088.1:p.Asn17fs frameshift NM_001310160.2:c.-733_-721del 5 prime UTR NM_001310161.3:c.-402_-390del 5 prime UTR NM_001368887.2:c.49_61del NP_001355816.1:p.Asn17fs frameshift NM_001368888.2:c.49_61del NP_001355817.1:p.Asn17fs frameshift NM_001368889.2:c.49_61del NP_001355818.1:p.Asn17fs frameshift NM_001368890.2:c.49_61del NP_001355819.1:p.Asn17fs frameshift NM_001368891.2:c.49_61del NP_001355820.1:p.Asn17fs frameshift NM_001368892.2:c.49_61del NP_001355821.1:p.Asn17fs frameshift NM_001368893.2:c.49_61del NP_001355822.1:p.Asn17fs frameshift NM_001368899.2:c.-360_-348del 5 prime UTR NM_001368900.2:c.-402_-390del 5 prime UTR NM_001368901.2:c.-360_-348del 5 prime UTR NM_001368902.2:c.-691_-679del 5 prime UTR NM_001368903.2:c.-402_-390del 5 prime UTR NM_001368904.2:c.-267-1020_-267-1008del intron variant NM_001368905.2:c.-733_-721del 5 prime UTR NM_001368906.2:c.-360_-348del 5 prime UTR NM_001368907.2:c.-360_-348del 5 prime UTR NM_001368908.2:c.-402_-390del 5 prime UTR NM_001368909.2:c.-267-1020_-267-1008del intron variant NM_001368910.2:c.292_304del NP_001355839.1:p.Asn98fs frameshift NM_001368911.2:c.52_64del NP_001355840.1:p.Asn18fs frameshift NM_001368912.2:c.49_61del NP_001355841.1:p.Asn17fs frameshift NM_001368913.2:c.49_61del NP_001355842.1:p.Asn17fs frameshift NM_001368914.2:c.49_61del NP_001355843.1:p.Asn17fs frameshift NM_001368915.2:c.49_61del NP_001355844.1:p.Asn17fs frameshift NM_001368916.2:c.49_61del NP_001355845.1:p.Asn17fs frameshift NM_001368917.2:c.49_61del NP_001355846.1:p.Asn17fs frameshift NM_001368918.2:c.49_61del NP_001355847.1:p.Asn17fs frameshift NM_001368919.2:c.49_61del NP_001355848.1:p.Asn17fs frameshift NM_001368920.2:c.49_61del NP_001355849.1:p.Asn17fs frameshift NM_001368921.2:c.49_61del NP_001355850.1:p.Asn17fs frameshift NM_001368922.2:c.49_61del NP_001355851.1:p.Asn17fs frameshift NM_001368923.2:c.49_61del NP_001355852.1:p.Asn17fs frameshift NM_001368924.2:c.49_61del NP_001355853.1:p.Asn17fs frameshift NM_001368925.2:c.49_61del NP_001355854.1:p.Asn17fs frameshift NM_001368926.2:c.49_61del NP_001355855.1:p.Asn17fs frameshift NM_001368927.2:c.49_61del NP_001355856.1:p.Asn17fs frameshift NM_001368928.2:c.49_61del NP_001355857.1:p.Asn17fs frameshift NM_001368929.2:c.-402_-390del 5 prime UTR NM_001604.6:c.49_61del NP_001595.2:p.Asn17fs frameshift NR_160916.2:n.471_483del non-coding transcript variant NR_160917.2:n.518_530del non-coding transcript variant NC_000011.10:g.31802785_31802797del NC_000011.9:g.31824333_31824345del NG_008679.1:g.20166_20178del LRG_720:g.20166_20178del LRG_720t1:c.48_60del LRG_720p1:p.Asn17Cysfs - Protein change
- N17fs, N18fs, N98fs
- Other names
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- Canonical SPDI
- NC_000011.10:31802783:GTGGCCGCCCGTTG:G
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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
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| 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
Help
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 |
698 | 902 | |
Conditions - Germline
| Condition
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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
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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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| Likely pathogenic (1) |
criteria provided, single submitter
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Dec 25, 2023 | RCV004587512.1 |
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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Likely pathogenic
(Dec 25, 2023)
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criteria provided, single submitter
Method: clinical testing
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Aniridia 1
Affected status: yes
Allele origin:
de novo
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Eye & ENT Hospital, Shanghai Medical College, Fudan University
Accession: SCV004242327.1
First in ClinVar: Jul 15, 2024 Last updated: Jul 15, 2024 |
Sex: female
Ethnicity/Population group: Asian
Geographic origin: China
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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| There 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 Jul 23, 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.