ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.233G>T (p.Gly78Val)
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.233G>T (p.Gly78Val)
Variation ID: 3472 Accession: VCV000003472.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p13 11: 31801727 (GRCh38) [ NCBI UCSC ] 11: 31823275 (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 Oct 2, 2016 Dec 23, 2019 Aug 15, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001368894.2:c.233G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Gly78Val missense NM_000280.6:c.191G>T NP_000271.1:p.Gly64Val missense NM_001127612.3:c.191G>T NP_001121084.1:p.Gly64Val missense NM_001258462.3:c.233G>T NP_001245391.1:p.Gly78Val missense NM_001258463.2:c.233G>T NP_001245392.1:p.Gly78Val missense NM_001258464.2:c.191G>T NP_001245393.1:p.Gly64Val missense NM_001258465.3:c.191G>T NP_001245394.1:p.Gly64Val missense NM_001310158.2:c.233G>T NP_001297087.1:p.Gly78Val missense NM_001310159.1:c.191G>T NP_001297088.1:p.Gly64Val missense NM_001310160.2:c.-549G>T 5 prime UTR NM_001310161.3:c.-218G>T 5 prime UTR NM_001368887.2:c.191G>T NP_001355816.1:p.Gly64Val missense NM_001368888.2:c.191G>T NP_001355817.1:p.Gly64Val missense NM_001368889.2:c.191G>T NP_001355818.1:p.Gly64Val missense NM_001368890.2:c.191G>T NP_001355819.1:p.Gly64Val missense NM_001368891.2:c.191G>T NP_001355820.1:p.Gly64Val missense NM_001368892.2:c.233G>T NP_001355821.1:p.Gly78Val missense NM_001368893.2:c.233G>T NP_001355822.1:p.Gly78Val missense NM_001368899.2:c.-218G>T 5 prime UTR NM_001368900.2:c.-218G>T 5 prime UTR NM_001368901.2:c.-218G>T 5 prime UTR NM_001368902.2:c.-549G>T 5 prime UTR NM_001368903.2:c.-218G>T 5 prime UTR NM_001368904.2:c.-218G>T 5 prime UTR NM_001368905.2:c.-549G>T 5 prime UTR NM_001368906.2:c.-218G>T 5 prime UTR NM_001368907.2:c.-218G>T 5 prime UTR NM_001368908.2:c.-218G>T 5 prime UTR NM_001368909.2:c.-218G>T 5 prime UTR NM_001368910.2:c.434G>T NP_001355839.1:p.Gly145Val missense NM_001368911.2:c.236G>T NP_001355840.1:p.Gly79Val missense NM_001368912.2:c.233G>T NP_001355841.1:p.Gly78Val missense NM_001368913.2:c.233G>T NP_001355842.1:p.Gly78Val missense NM_001368914.2:c.233G>T NP_001355843.1:p.Gly78Val missense NM_001368915.2:c.191G>T NP_001355844.1:p.Gly64Val missense NM_001368916.2:c.191G>T NP_001355845.1:p.Gly64Val missense NM_001368917.2:c.191G>T NP_001355846.1:p.Gly64Val missense NM_001368918.2:c.308G>T NP_001355847.1:p.Gly103Val missense NM_001368919.2:c.308G>T NP_001355848.1:p.Gly103Val missense NM_001368920.2:c.266G>T NP_001355849.1:p.Gly89Val missense NM_001368921.2:c.198+35G>T intron variant NM_001368922.2:c.198+35G>T intron variant NM_001368923.2:c.198+35G>T intron variant NM_001368924.2:c.198+35G>T intron variant NM_001368925.2:c.198+35G>T intron variant NM_001368926.2:c.198+35G>T intron variant NM_001368927.2:c.198+35G>T intron variant NM_001368928.2:c.156+35G>T intron variant NM_001368929.2:c.-218G>T 5 prime UTR NM_001604.6:c.233G>T NP_001595.2:p.Gly78Val missense NR_160916.2:n.655G>T non-coding transcript variant NR_160917.2:n.660G>T non-coding transcript variant NC_000011.10:g.31801727C>A NC_000011.9:g.31823275C>A NG_008679.1:g.21235G>T LRG_720:g.21235G>T LRG_720t1:c.191G>T P26367:p.Gly64Val - Protein change
- G64V, G78V, G89V, G103V, G79V, G145V
- Other names
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- Canonical SPDI
- NC_000011.10:31801726: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
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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 |
666 | 868 |
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 (1) |
no assertion criteria provided
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Feb 1, 1999 | RCV000003637.6 | |
Pathogenic (1) |
no assertion criteria provided
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Aug 15, 2019 | RCV000984384.2 |
Submissions - Germline
Classification
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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
(Feb 01, 1999)
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no assertion criteria provided
Method: literature only
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FOVEAL HYPOPLASIA 1 WITH CATARACT
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000023800.4
First in ClinVar: Apr 04, 2013 Last updated: Oct 02, 2016 |
Comment on evidence:
Hanson et al. (1999) described a family in which the mother and a son and daughter had foveal hypoplasia and cataract (FVH1; 136520). PAX6 mutation … (more)
Hanson et al. (1999) described a family in which the mother and a son and daughter had foveal hypoplasia and cataract (FVH1; 136520). PAX6 mutation analysis was indicated because of the presence of corneal and foveal abnormalities similar to those found in aniridia (106210). SSCP analysis followed by sequencing revealed a heterozygous 553G-T mutation, predicted to result in the substitution of glycine (GGC) by valine (GTC) at position 64, just beyond the third alpha-helix of the N-terminal paired subdomain. Glycine is absolutely invariant at this position in all paired domain proteins that had been characterized to that time. The proband had nystagmus and congenital bilateral cataracts. She had peripheral corneal vascularization and corneal epithelial changes similar to those seen in aniridia. She also had tilted optic discs and foveal hypoplasia. Her mother had congenital nystagmus with cataracts in addition to foveal hypoplasia and abnormalities of the peripheral corneal epithelium. Her brother had nystagmus from early infancy, and mild lens opacities were noted later. (less)
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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: SCV001055735.1
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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Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. | Hanson I | Human molecular genetics | 1999 | PMID: 9931324 |
Text-mined citations for rs121907920 ...
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.