ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs)
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.1277_1284dup (p.Ser429fs)
Variation ID: 2443076 Accession: VCV002443076.1
- Type and length
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Duplication, 8 bp
- Location
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Cytogenetic: 11p13 11: 31811508-31811509 (GRCh37) [ NCBI UCSC ] 11: 31789960-31789961 (GRCh38) [ 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 Sep 16, 2023 Sep 16, 2023 Mar 10, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001368894.2:c.1277_1284dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Ser429fs frameshift NM_019040.5:c.*6437_*6444dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
3 prime UTR NM_000280.6:c.1235_1242dup NP_000271.1:p.Ser415fs frameshift NM_001127612.3:c.1235_1242dup NP_001121084.1:p.Ser415fs frameshift NM_001258462.3:c.1277_1284dup NP_001245391.1:p.Ser429fs frameshift NM_001258463.2:c.1277_1284dup NP_001245392.1:p.Ser429fs frameshift NM_001258464.2:c.1235_1242dup NP_001245393.1:p.Ser415fs frameshift NM_001258465.3:c.1235_1242dup NP_001245394.1:p.Ser415fs frameshift NM_001288725.2:c.*6423_*6430dup 3 prime UTR NM_001288726.2:c.*6532_*6539dup 3 prime UTR NM_001310158.2:c.1277_1284dup NP_001297087.1:p.Ser429fs frameshift NM_001310160.2:c.827_834dup NP_001297089.1:p.Ser279fs frameshift NM_001310161.3:c.827_834dup NP_001297090.1:p.Ser279fs frameshift NM_001368887.2:c.1235_1242dup NP_001355816.1:p.Ser415fs frameshift NM_001368888.2:c.1235_1242dup NP_001355817.1:p.Ser415fs frameshift NM_001368889.2:c.1235_1242dup NP_001355818.1:p.Ser415fs frameshift NM_001368890.2:c.1235_1242dup NP_001355819.1:p.Ser415fs frameshift NM_001368891.2:c.1235_1242dup NP_001355820.1:p.Ser415fs frameshift NM_001368892.2:c.1277_1284dup NP_001355821.1:p.Ser429fs frameshift NM_001368893.2:c.1277_1284dup NP_001355822.1:p.Ser429fs frameshift NM_001368899.2:c.827_834dup NP_001355828.1:p.Ser279fs frameshift NM_001368900.2:c.827_834dup NP_001355829.1:p.Ser279fs frameshift NM_001368901.2:c.827_834dup NP_001355830.1:p.Ser279fs frameshift NM_001368902.2:c.827_834dup NP_001355831.1:p.Ser279fs frameshift NM_001368903.2:c.827_834dup NP_001355832.1:p.Ser279fs frameshift NM_001368904.2:c.827_834dup NP_001355833.1:p.Ser279fs frameshift NM_001368905.2:c.827_834dup NP_001355834.1:p.Ser279fs frameshift NM_001368906.2:c.827_834dup NP_001355835.1:p.Ser279fs frameshift NM_001368907.2:c.827_834dup NP_001355836.1:p.Ser279fs frameshift NM_001368908.2:c.827_834dup NP_001355837.1:p.Ser279fs frameshift NM_001368909.2:c.827_834dup NP_001355838.1:p.Ser279fs frameshift NM_001368910.2:c.1478_1485dup NP_001355839.1:p.Ser496fs frameshift NM_001368911.2:c.1129_1136dup NP_001355840.1:p.Cys379_Leu380insTer nonsense inframe insertion NM_001368912.2:c.1126_1133dup NP_001355841.1:p.Cys378_Leu379insTer nonsense inframe insertion NM_001368913.2:c.1126_1133dup NP_001355842.1:p.Cys378_Leu379insTer nonsense inframe insertion NM_001368914.2:c.1126_1133dup NP_001355843.1:p.Cys378_Leu379insTer nonsense inframe insertion NM_001368915.2:c.1084_1091dup NP_001355844.1:p.Cys364_Leu365insTer nonsense inframe insertion NM_001368916.2:c.1084_1091dup NP_001355845.1:p.Cys364_Leu365insTer nonsense inframe insertion NM_001368917.2:c.1084_1091dup NP_001355846.1:p.Cys364_Leu365insTer nonsense inframe insertion NM_001368918.2:c.1352_1359dup NP_001355847.1:p.Ser454fs frameshift NM_001368919.2:c.1352_1359dup NP_001355848.1:p.Ser454fs frameshift NM_001368920.2:c.1310_1317dup NP_001355849.1:p.Ser440fs frameshift NM_001368921.2:c.925_932dup NP_001355850.1:p.Cys311_Leu312insTer nonsense inframe insertion NM_001368922.2:c.1076_1083dup NP_001355851.1:p.Ser362fs frameshift NM_001368923.2:c.1076_1083dup NP_001355852.1:p.Ser362fs frameshift NM_001368924.2:c.1076_1083dup NP_001355853.1:p.Ser362fs frameshift NM_001368925.2:c.1076_1083dup NP_001355854.1:p.Ser362fs frameshift NM_001368926.2:c.1076_1083dup NP_001355855.1:p.Ser362fs frameshift NM_001368927.2:c.1076_1083dup NP_001355856.1:p.Ser362fs frameshift NM_001368928.2:c.1034_1041dup NP_001355857.1:p.Ser348fs frameshift NM_001368929.2:c.676_683dup NP_001355858.1:p.Cys228_Leu229insTer nonsense inframe insertion NM_001368930.2:c.632_639dup NP_001355859.1:p.Ser214fs frameshift NM_001604.6:c.1277_1284dup NP_001595.2:p.Ser429fs frameshift NR_160916.2:n.1465_1472dup non-coding transcript variant NR_160917.2:n.1621_1628dup non-coding transcript variant NC_000011.10:g.31789961_31789968dup NC_000011.9:g.31811509_31811516dup NG_008679.1:g.32994_33001dup NG_034086.2:g.285196_285203dup LRG_720:g.32994_33001dup LRG_720t1:c.1235_1242dup LRG_720p1:p.Ser415Leufs - Protein change
- S214fs, S279fs, S348fs, S362fs, S415fs, S429fs, S440fs, S454fs, S496fs
- Other names
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- Canonical SPDI
- NC_000011.10:31789960:CATATCAG:CATATCAGCATATCAG
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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 |
698 | 902 | |
| ELP4 | - | - |
GRCh38 GRCh37 |
62 | 288 | |
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. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
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Mar 10, 2023 | RCV003326663.2 |
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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Pathogenic
(Mar 10, 2023)
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criteria provided, single submitter
Method: research
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Aniridia 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
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KK Women’s and Children’s Hospital
Accession: SCV003838987.1
First in ClinVar: Sep 16, 2023 Last updated: Sep 16, 2023 |
Indication for testing: Complete aniridia
Zygosity: Single Heterozygote
Ethnicity/Population group: Chinese
Geographic origin: Singapore
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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 Sep 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.