ClinVar Genomic variation as it relates to human health
NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs)
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
-
NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs)
Variation ID: 800437 Accession: VCV000800437.2
- Type and length
-
Insertion, 1 bp
- Location
-
Cytogenetic: 11p13 11: 31800743-31800744 (GRCh38) [ NCBI UCSC ] 11: 31822291-31822292 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Dec 23, 2019 Dec 23, 2019 Aug 15, 2019 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001368894.2:c.512_513insA MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001355823.1:p.Thr172fs frameshift NM_000280.6:c.470_471insA NP_000271.1:p.Thr158fs frameshift NM_001127612.3:c.470_471insA NP_001121084.1:p.Thr158fs frameshift NM_001258462.3:c.512_513insA NP_001245391.1:p.Thr172fs frameshift NM_001258463.2:c.512_513insA NP_001245392.1:p.Thr172fs frameshift NM_001258464.2:c.470_471insA NP_001245393.1:p.Thr158fs frameshift NM_001258465.3:c.470_471insA NP_001245394.1:p.Thr158fs frameshift NM_001310158.2:c.512_513insA NP_001297087.1:p.Thr172fs frameshift NM_001310159.1:c.470_471insA NP_001297088.1:p.Thr158fs frameshift NM_001310160.2:c.62_63insA NP_001297089.1:p.Thr22fs frameshift NM_001310161.3:c.62_63insA NP_001297090.1:p.Thr22fs frameshift NM_001368887.2:c.470_471insA NP_001355816.1:p.Thr158fs frameshift NM_001368888.2:c.470_471insA NP_001355817.1:p.Thr158fs frameshift NM_001368889.2:c.470_471insA NP_001355818.1:p.Thr158fs frameshift NM_001368890.2:c.470_471insA NP_001355819.1:p.Thr158fs frameshift NM_001368891.2:c.470_471insA NP_001355820.1:p.Thr158fs frameshift NM_001368892.2:c.512_513insA NP_001355821.1:p.Thr172fs frameshift NM_001368893.2:c.512_513insA NP_001355822.1:p.Thr172fs frameshift NM_001368899.2:c.62_63insA NP_001355828.1:p.Thr22fs frameshift NM_001368900.2:c.62_63insA NP_001355829.1:p.Thr22fs frameshift NM_001368901.2:c.62_63insA NP_001355830.1:p.Thr22fs frameshift NM_001368902.2:c.62_63insA NP_001355831.1:p.Thr22fs frameshift NM_001368903.2:c.62_63insA NP_001355832.1:p.Thr22fs frameshift NM_001368904.2:c.62_63insA NP_001355833.1:p.Thr22fs frameshift NM_001368905.2:c.62_63insA NP_001355834.1:p.Thr22fs frameshift NM_001368906.2:c.62_63insA NP_001355835.1:p.Thr22fs frameshift NM_001368907.2:c.62_63insA NP_001355836.1:p.Thr22fs frameshift NM_001368908.2:c.62_63insA NP_001355837.1:p.Thr22fs frameshift NM_001368909.2:c.62_63insA NP_001355838.1:p.Thr22fs frameshift NM_001368910.2:c.713_714insA NP_001355839.1:p.Thr239fs frameshift NM_001368911.2:c.515_516insA NP_001355840.1:p.Thr173fs frameshift NM_001368912.2:c.512_513insA NP_001355841.1:p.Thr172fs frameshift NM_001368913.2:c.512_513insA NP_001355842.1:p.Thr172fs frameshift NM_001368914.2:c.512_513insA NP_001355843.1:p.Thr172fs frameshift NM_001368915.2:c.470_471insA NP_001355844.1:p.Thr158fs frameshift NM_001368916.2:c.470_471insA NP_001355845.1:p.Thr158fs frameshift NM_001368917.2:c.470_471insA NP_001355846.1:p.Thr158fs frameshift NM_001368918.2:c.587_588insA NP_001355847.1:p.Thr197fs frameshift NM_001368919.2:c.587_588insA NP_001355848.1:p.Thr197fs frameshift NM_001368920.2:c.545_546insA NP_001355849.1:p.Thr183fs frameshift NM_001368921.2:c.311_312insA NP_001355850.1:p.Thr105fs frameshift NM_001368922.2:c.311_312insA NP_001355851.1:p.Thr105fs frameshift NM_001368923.2:c.311_312insA NP_001355852.1:p.Thr105fs frameshift NM_001368924.2:c.311_312insA NP_001355853.1:p.Thr105fs frameshift NM_001368925.2:c.311_312insA NP_001355854.1:p.Thr105fs frameshift NM_001368926.2:c.311_312insA NP_001355855.1:p.Thr105fs frameshift NM_001368927.2:c.311_312insA NP_001355856.1:p.Thr105fs frameshift NM_001368928.2:c.269_270insA NP_001355857.1:p.Thr91fs frameshift NM_001368929.2:c.62_63insA NP_001355858.1:p.Thr22fs frameshift NM_001604.6:c.512_513insA NP_001595.2:p.Thr172fs frameshift NR_160916.2:n.934_935insA non-coding transcript variant NR_160917.2:n.939_940insA non-coding transcript variant NC_000011.10:g.31800743_31800744insT NC_000011.9:g.31822291_31822292insT NG_008679.1:g.22218_22219insA LRG_720:g.22218_22219insA LRG_720t1:c.470_471insA - Protein change
- T158fs, T183fs, T105fs, T172fs, T197fs, T239fs, T91fs, T173fs, T22fs
- Other names
- -
- Canonical SPDI
- NC_000011.10:31800743::T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- 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. |
|||
PAX6 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
668 | 870 |
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) |
no assertion criteria provided
|
Aug 15, 2019 | RCV000984414.2 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Aug 15, 2019)
|
no assertion criteria provided
Method: clinical testing
|
Aniridia 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
|
Wessex Regional Genetics Laboratory, Salisbury District Hospital
Accession: SCV001055767.1
First in ClinVar: Dec 23, 2019 Last updated: Dec 23, 2019 |
|
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
HelpThere 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 rs1592530521 ...
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.