ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)
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.553C>T (p.Gln185Ter)
Variation ID: 430998 Accession: VCV000430998.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p13 11: 31800703 (GRCh38) [ NCBI UCSC ] 11: 31822251 (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 30, 2017 Feb 28, 2024 Oct 6, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001368894.2:c.553C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Gln185Ter nonsense NM_000280.6:c.511C>T NP_000271.1:p.Gln171Ter nonsense NM_001127612.3:c.511C>T NP_001121084.1:p.Gln171Ter nonsense NM_001258462.3:c.553C>T NP_001245391.1:p.Gln185Ter nonsense NM_001258463.2:c.553C>T NP_001245392.1:p.Gln185Ter nonsense NM_001258464.2:c.511C>T NP_001245393.1:p.Gln171Ter nonsense NM_001258465.3:c.511C>T NP_001245394.1:p.Gln171Ter nonsense NM_001310158.2:c.553C>T NP_001297087.1:p.Gln185Ter nonsense NM_001310159.1:c.511C>T NP_001297088.1:p.Gln171Ter nonsense NM_001310160.2:c.103C>T NP_001297089.1:p.Gln35Ter nonsense NM_001310161.3:c.103C>T NP_001297090.1:p.Gln35Ter nonsense NM_001368887.2:c.511C>T NP_001355816.1:p.Gln171Ter nonsense NM_001368888.2:c.511C>T NP_001355817.1:p.Gln171Ter nonsense NM_001368889.2:c.511C>T NP_001355818.1:p.Gln171Ter nonsense NM_001368890.2:c.511C>T NP_001355819.1:p.Gln171Ter nonsense NM_001368891.2:c.511C>T NP_001355820.1:p.Gln171Ter nonsense NM_001368892.2:c.553C>T NP_001355821.1:p.Gln185Ter nonsense NM_001368893.2:c.553C>T NP_001355822.1:p.Gln185Ter nonsense NM_001368899.2:c.103C>T NP_001355828.1:p.Gln35Ter nonsense NM_001368900.2:c.103C>T NP_001355829.1:p.Gln35Ter nonsense NM_001368901.2:c.103C>T NP_001355830.1:p.Gln35Ter nonsense NM_001368902.2:c.103C>T NP_001355831.1:p.Gln35Ter nonsense NM_001368903.2:c.103C>T NP_001355832.1:p.Gln35Ter nonsense NM_001368904.2:c.103C>T NP_001355833.1:p.Gln35Ter nonsense NM_001368905.2:c.103C>T NP_001355834.1:p.Gln35Ter nonsense NM_001368906.2:c.103C>T NP_001355835.1:p.Gln35Ter nonsense NM_001368907.2:c.103C>T NP_001355836.1:p.Gln35Ter nonsense NM_001368908.2:c.103C>T NP_001355837.1:p.Gln35Ter nonsense NM_001368909.2:c.103C>T NP_001355838.1:p.Gln35Ter nonsense NM_001368910.2:c.754C>T NP_001355839.1:p.Gln252Ter nonsense NM_001368911.2:c.556C>T NP_001355840.1:p.Gln186Ter nonsense NM_001368912.2:c.553C>T NP_001355841.1:p.Gln185Ter nonsense NM_001368913.2:c.553C>T NP_001355842.1:p.Gln185Ter nonsense NM_001368914.2:c.553C>T NP_001355843.1:p.Gln185Ter nonsense NM_001368915.2:c.511C>T NP_001355844.1:p.Gln171Ter nonsense NM_001368916.2:c.511C>T NP_001355845.1:p.Gln171Ter nonsense NM_001368917.2:c.511C>T NP_001355846.1:p.Gln171Ter nonsense NM_001368918.2:c.628C>T NP_001355847.1:p.Gln210Ter nonsense NM_001368919.2:c.628C>T NP_001355848.1:p.Gln210Ter nonsense NM_001368920.2:c.586C>T NP_001355849.1:p.Gln196Ter nonsense NM_001368921.2:c.352C>T NP_001355850.1:p.Gln118Ter nonsense NM_001368922.2:c.352C>T NP_001355851.1:p.Gln118Ter nonsense NM_001368923.2:c.352C>T NP_001355852.1:p.Gln118Ter nonsense NM_001368924.2:c.352C>T NP_001355853.1:p.Gln118Ter nonsense NM_001368925.2:c.352C>T NP_001355854.1:p.Gln118Ter nonsense NM_001368926.2:c.352C>T NP_001355855.1:p.Gln118Ter nonsense NM_001368927.2:c.352C>T NP_001355856.1:p.Gln118Ter nonsense NM_001368928.2:c.310C>T NP_001355857.1:p.Gln104Ter nonsense NM_001368929.2:c.103C>T NP_001355858.1:p.Gln35Ter nonsense NM_001604.6:c.553C>T NP_001595.2:p.Gln185Ter nonsense NR_160916.2:n.975C>T non-coding transcript variant NR_160917.2:n.980C>T non-coding transcript variant NC_000011.10:g.31800703G>A NC_000011.9:g.31822251G>A NG_008679.1:g.22259C>T LRG_720:g.22259C>T LRG_720t1:c.511C>T - Protein change
- Q171*, Q118*, Q186*, Q252*, Q185*, Q210*, Q104*, Q196*, Q35*
- Other names
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- Canonical SPDI
- NC_000011.10:31800702:G:A
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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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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
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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 (2) |
no assertion criteria provided
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Aug 15, 2019 | RCV000496078.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 6, 2017 | RCV000635403.6 |
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
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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
(Oct 06, 2017)
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criteria provided, single submitter
Method: clinical testing
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Aniridia 1
Irido-corneo-trabecular dysgenesis
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000756816.4
First in ClinVar: May 28, 2018 Last updated: Feb 28, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PAX6 are known to be pathogenic (PMID: 12634864). This variant has been … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PAX6 are known to be pathogenic (PMID: 12634864). This variant has been reported in the literature in an individual with congenital aniridia (PMID: 28321846). ClinVar contains an entry for this variant (Variation ID: 430998). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln171*) in the PAX6 gene. It is expected to result in an absent or disrupted protein product. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: research
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Aniridia 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
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Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics
Accession: SCV000584150.1
First in ClinVar: Jul 30, 2017 Last updated: Jul 30, 2017 |
Geographic origin: Russia
Method: Sanger sequencing
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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:
inherited
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Wessex Regional Genetics Laboratory, Salisbury District Hospital
Accession: SCV001055772.1
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
HelpTitle | Author | Journal | Year | Link |
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Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. | Vasilyeva TA | Clinical genetics | 2017 | PMID: 28321846 |
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. | Vincent MC | European journal of human genetics : EJHG | 2003 | PMID: 12634864 |
Text-mined citations for rs1131692308 ...
HelpRecord last updated May 01, 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.