The c.1043_1053del11 pathogenic variant in the PAX6 gene causes a frameshift starting with codon Proline 348, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Pro348LeufsX19. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.1085_1095del (p.Pro362fs)
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)
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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.
Pathogenic
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.1085_1095del (p.Pro362fs)
Variation ID: 524067 Accession: VCV000524067.3
- Type and length
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Deletion, 11 bp
- Location
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Cytogenetic: 11p13 11: 31790840-31790850 (GRCh38) [ NCBI UCSC ] 11: 31812388-31812398 (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 May 21, 2018 May 21, 2018 Apr 17, 2018 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001368894.2:c.1085_1095del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Pro362fs frameshift NM_000280.6:c.1043_1053del NP_000271.1:p.Pro348fs frameshift NM_001127612.3:c.1043_1053del NP_001121084.1:p.Pro348fs frameshift NM_001258462.3:c.1085_1095del NP_001245391.1:p.Pro362fs frameshift NM_001258463.2:c.1085_1095del NP_001245392.1:p.Pro362fs frameshift NM_001258464.2:c.1043_1053del NP_001245393.1:p.Pro348fs frameshift NM_001258465.3:c.1043_1053del NP_001245394.1:p.Pro348fs frameshift NM_001310158.2:c.1085_1095del NP_001297087.1:p.Pro362fs frameshift NM_001310160.2:c.635_645del NP_001297089.1:p.Pro212fs frameshift NM_001310161.3:c.635_645del NP_001297090.1:p.Pro212fs frameshift NM_001368887.2:c.1043_1053del NP_001355816.1:p.Pro348fs frameshift NM_001368888.2:c.1043_1053del NP_001355817.1:p.Pro348fs frameshift NM_001368889.2:c.1043_1053del NP_001355818.1:p.Pro348fs frameshift NM_001368890.2:c.1043_1053del NP_001355819.1:p.Pro348fs frameshift NM_001368891.2:c.1043_1053del NP_001355820.1:p.Pro348fs frameshift NM_001368892.2:c.1085_1095del NP_001355821.1:p.Pro362fs frameshift NM_001368893.2:c.1085_1095del NP_001355822.1:p.Pro362fs frameshift NM_001368899.2:c.635_645del NP_001355828.1:p.Pro212fs frameshift NM_001368900.2:c.635_645del NP_001355829.1:p.Pro212fs frameshift NM_001368901.2:c.635_645del NP_001355830.1:p.Pro212fs frameshift NM_001368902.2:c.635_645del NP_001355831.1:p.Pro212fs frameshift NM_001368903.2:c.635_645del NP_001355832.1:p.Pro212fs frameshift NM_001368904.2:c.635_645del NP_001355833.1:p.Pro212fs frameshift NM_001368905.2:c.635_645del NP_001355834.1:p.Pro212fs frameshift NM_001368906.2:c.635_645del NP_001355835.1:p.Pro212fs frameshift NM_001368907.2:c.635_645del NP_001355836.1:p.Pro212fs frameshift NM_001368908.2:c.635_645del NP_001355837.1:p.Pro212fs frameshift NM_001368909.2:c.635_645del NP_001355838.1:p.Pro212fs frameshift NM_001368910.2:c.1286_1296del NP_001355839.1:p.Pro429fs frameshift NM_001368911.2:c.1078-831_1078-821del intron variant NM_001368912.2:c.1075-831_1075-821del intron variant NM_001368913.2:c.1075-831_1075-821del intron variant NM_001368914.2:c.1075-831_1075-821del intron variant NM_001368915.2:c.1033-831_1033-821del intron variant NM_001368916.2:c.1033-831_1033-821del intron variant NM_001368917.2:c.1033-831_1033-821del intron variant NM_001368918.2:c.1160_1170del NP_001355847.1:p.Pro387fs frameshift NM_001368919.2:c.1160_1170del NP_001355848.1:p.Pro387fs frameshift NM_001368920.2:c.1118_1128del NP_001355849.1:p.Pro373fs frameshift NM_001368921.2:c.874-831_874-821del intron variant NM_001368922.2:c.884_894del NP_001355851.1:p.Pro295fs frameshift NM_001368923.2:c.884_894del NP_001355852.1:p.Pro295fs frameshift NM_001368924.2:c.884_894del NP_001355853.1:p.Pro295fs frameshift NM_001368925.2:c.884_894del NP_001355854.1:p.Pro295fs frameshift NM_001368926.2:c.884_894del NP_001355855.1:p.Pro295fs frameshift NM_001368927.2:c.884_894del NP_001355856.1:p.Pro295fs frameshift NM_001368928.2:c.842_852del NP_001355857.1:p.Pro281fs frameshift NM_001368929.2:c.625-831_625-821del intron variant NM_001368930.2:c.440_450del NP_001355859.1:p.Pro147fs frameshift NM_001604.6:c.1085_1095del NP_001595.2:p.Pro362fs frameshift NR_160917.2:n.1429_1439del non-coding transcript variant NC_000011.10:g.31790842_31790852del NC_000011.9:g.31812390_31812400del NG_008679.1:g.32112_32122del LRG_720:g.32112_32122del LRG_720t1:c.1043_1053del - Protein change
- P281fs, P348fs, P373fs, P387fs, P429fs, P212fs, P295fs, P362fs, P147fs
- Other names
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- Canonical SPDI
- NC_000011.10:31790839:GGTCTGGCTGGGG:GG
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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. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
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Apr 17, 2018 | RCV000627563.2 |
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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|---|---|---|---|---|---|
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Pathogenic
(Apr 17, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000748563.3
First in ClinVar: May 21, 2018 Last updated: May 21, 2018 |
Comment:
The c.1043_1053del11 pathogenic variant in the PAX6 gene causes a frameshift starting with codon Proline 348, changes this amino acid to a Leucine residue and … (more)
The c.1043_1053del11 pathogenic variant in the PAX6 gene causes a frameshift starting with codon Proline 348, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Pro348LeufsX19. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. (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:
The c.1043_1053del11 pathogenic variant in the PAX6 gene causes a frameshift starting with codon Proline 348, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 19 of the new reading frame, denoted p.Pro348LeufsX19. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
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 rs1554982615 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated May 24, 2022
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.