ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.131G>C (p.Arg44Pro)
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.131G>C (p.Arg44Pro)
Variation ID: 430901 Accession: VCV000430901.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p13 11: 31802714 (GRCh38) [ NCBI UCSC ] 11: 31824262 (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 Apr 9, 2018 Apr 9, 2018 Apr 1, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001368894.2:c.131G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Arg44Pro missense NM_000280.6:c.131G>C NP_000271.1:p.Arg44Pro missense NM_001127612.3:c.131G>C NP_001121084.1:p.Arg44Pro missense NM_001258462.3:c.131G>C NP_001245391.1:p.Arg44Pro missense NM_001258463.2:c.131G>C NP_001245392.1:p.Arg44Pro missense NM_001258464.2:c.131G>C NP_001245393.1:p.Arg44Pro missense NM_001258465.3:c.131G>C NP_001245394.1:p.Arg44Pro missense NM_001310158.2:c.131G>C NP_001297087.1:p.Arg44Pro missense NM_001310159.1:c.131G>C NP_001297088.1:p.Arg44Pro missense NM_001310160.2:c.-651G>C 5 prime UTR NM_001310161.3:c.-320G>C 5 prime UTR NM_001368887.2:c.131G>C NP_001355816.1:p.Arg44Pro missense NM_001368888.2:c.131G>C NP_001355817.1:p.Arg44Pro missense NM_001368889.2:c.131G>C NP_001355818.1:p.Arg44Pro missense NM_001368890.2:c.131G>C NP_001355819.1:p.Arg44Pro missense NM_001368891.2:c.131G>C NP_001355820.1:p.Arg44Pro missense NM_001368892.2:c.131G>C NP_001355821.1:p.Arg44Pro missense NM_001368893.2:c.131G>C NP_001355822.1:p.Arg44Pro missense NM_001368899.2:c.-278G>C 5 prime UTR NM_001368900.2:c.-320G>C 5 prime UTR NM_001368901.2:c.-278G>C 5 prime UTR NM_001368902.2:c.-609G>C 5 prime UTR NM_001368903.2:c.-320G>C 5 prime UTR NM_001368904.2:c.-267-938G>C intron variant NM_001368905.2:c.-651G>C 5 prime UTR NM_001368906.2:c.-278G>C 5 prime UTR NM_001368907.2:c.-278G>C 5 prime UTR NM_001368908.2:c.-320G>C 5 prime UTR NM_001368909.2:c.-267-938G>C intron variant NM_001368910.2:c.374G>C NP_001355839.1:p.Arg125Pro missense NM_001368911.2:c.134G>C NP_001355840.1:p.Arg45Pro missense NM_001368912.2:c.131G>C NP_001355841.1:p.Arg44Pro missense NM_001368913.2:c.131G>C NP_001355842.1:p.Arg44Pro missense NM_001368914.2:c.131G>C NP_001355843.1:p.Arg44Pro missense NM_001368915.2:c.131G>C NP_001355844.1:p.Arg44Pro missense NM_001368916.2:c.131G>C NP_001355845.1:p.Arg44Pro missense NM_001368917.2:c.131G>C NP_001355846.1:p.Arg44Pro missense NM_001368918.2:c.131G>C NP_001355847.1:p.Arg44Pro missense NM_001368919.2:c.131G>C NP_001355848.1:p.Arg44Pro missense NM_001368920.2:c.131G>C NP_001355849.1:p.Arg44Pro missense NM_001368921.2:c.131G>C NP_001355850.1:p.Arg44Pro missense NM_001368922.2:c.131G>C NP_001355851.1:p.Arg44Pro missense NM_001368923.2:c.131G>C NP_001355852.1:p.Arg44Pro missense NM_001368924.2:c.131G>C NP_001355853.1:p.Arg44Pro missense NM_001368925.2:c.131G>C NP_001355854.1:p.Arg44Pro missense NM_001368926.2:c.131G>C NP_001355855.1:p.Arg44Pro missense NM_001368927.2:c.131G>C NP_001355856.1:p.Arg44Pro missense NM_001368928.2:c.131G>C NP_001355857.1:p.Arg44Pro missense NM_001368929.2:c.-320G>C 5 prime UTR NM_001604.6:c.131G>C NP_001595.2:p.Arg44Pro missense NR_160916.2:n.553G>C non-coding transcript variant NR_160917.2:n.600G>C non-coding transcript variant NC_000011.10:g.31802714C>G NC_000011.9:g.31824262C>G NG_008679.1:g.20248G>C LRG_720:g.20248G>C - Protein change
- R44P, R45P, R125P
- Other names
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- Canonical SPDI
- NC_000011.10:31802713:C: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
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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
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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 |
693 | 897 | |
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
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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| Pathogenic (1) |
no assertion criteria provided
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Apr 1, 2017 | RCV000603782.3 |
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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Pathogenic
(Apr 01, 2017)
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no assertion criteria provided
Method: clinical testing
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Microphthalmia
Congenital cataracts
Affected status: yes
Allele origin:
germline
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Fundació de Recerca de l'Institut de Microcirurgia Ocular
Accession: SCV000583987.1
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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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| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. | Riera M | Molecular genetics & genomic medicine | 2017 | PMID: 29178648 |
Text-mined citations for rs1554985722 ...
HelpRecord last updated Jun 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.