Reported in the published literature in a patient with congenital cataract, microphthalmos, and pseudophakia who also harbors other potentially disease-causing variants (PMID: 29770612); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29770612, 32360764)
ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.1024G>T (p.Ala342Ser)
Germline
Classification
Help
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.
(1)
Help
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001368894.2(PAX6):c.1024G>T (p.Ala342Ser)
Variation ID: 3371737 Accession: VCV003371737.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p13 11: 31793488 (GRCh38) [ NCBI UCSC ] 11: 31815036 (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 Nov 10, 2024 Nov 10, 2024 Apr 26, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001368894.2:c.1024G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Ala342Ser missense NM_000280.6:c.982G>T NP_000271.1:p.Ala328Ser missense NM_001127612.3:c.982G>T NP_001121084.1:p.Ala328Ser missense NM_001258462.3:c.1024G>T NP_001245391.1:p.Ala342Ser missense NM_001258463.2:c.1024G>T NP_001245392.1:p.Ala342Ser missense NM_001258464.2:c.982G>T NP_001245393.1:p.Ala328Ser missense NM_001258465.3:c.982G>T NP_001245394.1:p.Ala328Ser missense NM_001310158.2:c.1024G>T NP_001297087.1:p.Ala342Ser missense NM_001310159.1:c.982G>T NP_001297088.1:p.Ala328Ser missense NM_001310160.2:c.574G>T NP_001297089.1:p.Ala192Ser missense NM_001310161.3:c.574G>T NP_001297090.1:p.Ala192Ser missense NM_001368887.2:c.982G>T NP_001355816.1:p.Ala328Ser missense NM_001368888.2:c.982G>T NP_001355817.1:p.Ala328Ser missense NM_001368889.2:c.982G>T NP_001355818.1:p.Ala328Ser missense NM_001368890.2:c.982G>T NP_001355819.1:p.Ala328Ser missense NM_001368891.2:c.982G>T NP_001355820.1:p.Ala328Ser missense NM_001368892.2:c.1024G>T NP_001355821.1:p.Ala342Ser missense NM_001368893.2:c.1024G>T NP_001355822.1:p.Ala342Ser missense NM_001368899.2:c.574G>T NP_001355828.1:p.Ala192Ser missense NM_001368900.2:c.574G>T NP_001355829.1:p.Ala192Ser missense NM_001368901.2:c.574G>T NP_001355830.1:p.Ala192Ser missense NM_001368902.2:c.574G>T NP_001355831.1:p.Ala192Ser missense NM_001368903.2:c.574G>T NP_001355832.1:p.Ala192Ser missense NM_001368904.2:c.574G>T NP_001355833.1:p.Ala192Ser missense NM_001368905.2:c.574G>T NP_001355834.1:p.Ala192Ser missense NM_001368906.2:c.574G>T NP_001355835.1:p.Ala192Ser missense NM_001368907.2:c.574G>T NP_001355836.1:p.Ala192Ser missense NM_001368908.2:c.574G>T NP_001355837.1:p.Ala192Ser missense NM_001368909.2:c.574G>T NP_001355838.1:p.Ala192Ser missense NM_001368910.2:c.1225G>T NP_001355839.1:p.Ala409Ser missense NM_001368911.2:c.1027G>T NP_001355840.1:p.Ala343Ser missense NM_001368912.2:c.1024G>T NP_001355841.1:p.Ala342Ser missense NM_001368913.2:c.1024G>T NP_001355842.1:p.Ala342Ser missense NM_001368914.2:c.1024G>T NP_001355843.1:p.Ala342Ser missense NM_001368915.2:c.982G>T NP_001355844.1:p.Ala328Ser missense NM_001368916.2:c.982G>T NP_001355845.1:p.Ala328Ser missense NM_001368917.2:c.982G>T NP_001355846.1:p.Ala328Ser missense NM_001368918.2:c.1099G>T NP_001355847.1:p.Ala367Ser missense NM_001368919.2:c.1099G>T NP_001355848.1:p.Ala367Ser missense NM_001368920.2:c.1057G>T NP_001355849.1:p.Ala353Ser missense NM_001368921.2:c.823G>T NP_001355850.1:p.Ala275Ser missense NM_001368922.2:c.823G>T NP_001355851.1:p.Ala275Ser missense NM_001368923.2:c.823G>T NP_001355852.1:p.Ala275Ser missense NM_001368924.2:c.823G>T NP_001355853.1:p.Ala275Ser missense NM_001368925.2:c.823G>T NP_001355854.1:p.Ala275Ser missense NM_001368926.2:c.823G>T NP_001355855.1:p.Ala275Ser missense NM_001368927.2:c.823G>T NP_001355856.1:p.Ala275Ser missense NM_001368928.2:c.781G>T NP_001355857.1:p.Ala261Ser missense NM_001368929.2:c.574G>T NP_001355858.1:p.Ala192Ser missense NM_001368930.2:c.379G>T NP_001355859.1:p.Ala127Ser missense NM_001604.6:c.1024G>T NP_001595.2:p.Ala342Ser missense NR_160916.2:n.1363G>T non-coding transcript variant NR_160917.2:n.1368G>T non-coding transcript variant NC_000011.10:g.31793488C>A NC_000011.9:g.31815036C>A NG_008679.1:g.29474G>T NG_159898.1:g.382C>A LRG_720:g.29474G>T LRG_720t1:c.982G>T LRG_720p1:p.Ala328Ser - Protein change
- A328S, A342S, A343S, A353S, A367S, A409S, A127S, A192S, A261S, A275S
- Other names
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- Canonical SPDI
- NC_000011.10:31793487:C: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
Help
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
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. |
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| PAX6 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
695 | 899 | |
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Apr 26, 2024 | RCV004778512.1 |
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
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. |
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Uncertain significance
(Apr 26, 2024)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV005389761.1
First in ClinVar: Nov 10, 2024 Last updated: Nov 10, 2024 |
Comment:
Reported in the published literature in a patient with congenital cataract, microphthalmos, and pseudophakia who also harbors other potentially disease-causing variants (PMID: 29770612); Not observed … (more)
Reported in the published literature in a patient with congenital cataract, microphthalmos, and pseudophakia who also harbors other potentially disease-causing variants (PMID: 29770612); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29770612, 32360764) (less)
|
Comment:
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. |
Comment:
Reported in the published literature in a patient with congenital cataract, microphthalmos, and pseudophakia who also harbors other potentially disease-causing variants (PMID: 29770612); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29770612, 32360764)
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 Nov 10, 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.