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NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?) AND Aniridia 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 28, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000853307.2

Allele description [Variation Report for NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?)]

NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?)

Genes:
ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?)
HGVS:
  • NC_000011.10:g.31789936dup
  • NG_008679.1:g.33026dup
  • NG_034086.2:g.285171dup
  • NM_000280.6:c.1267dup
  • NM_001127612.3:c.1267dup
  • NM_001258462.3:c.1309dup
  • NM_001258463.2:c.1309dup
  • NM_001258464.2:c.1267dup
  • NM_001258465.3:c.1267dup
  • NM_001288725.2:c.*6398dup
  • NM_001288726.2:c.*6507dup
  • NM_001310158.2:c.1309dup
  • NM_001310160.2:c.859dup
  • NM_001310161.3:c.859dup
  • NM_001368887.2:c.1267dup
  • NM_001368888.2:c.1267dup
  • NM_001368889.2:c.1267dup
  • NM_001368890.2:c.1267dup
  • NM_001368891.2:c.1267dup
  • NM_001368892.2:c.1309dup
  • NM_001368893.2:c.1309dup
  • NM_001368894.2:c.1309dupMANE SELECT
  • NM_001368899.2:c.859dup
  • NM_001368900.2:c.859dup
  • NM_001368901.2:c.859dup
  • NM_001368902.2:c.859dup
  • NM_001368903.2:c.859dup
  • NM_001368904.2:c.859dup
  • NM_001368905.2:c.859dup
  • NM_001368906.2:c.859dup
  • NM_001368907.2:c.859dup
  • NM_001368908.2:c.859dup
  • NM_001368909.2:c.859dup
  • NM_001368910.2:c.1510dup
  • NM_001368911.2:c.1161dup
  • NM_001368912.2:c.1158dup
  • NM_001368913.2:c.1158dup
  • NM_001368914.2:c.1158dup
  • NM_001368915.2:c.1116dup
  • NM_001368916.2:c.1116dup
  • NM_001368917.2:c.1116dup
  • NM_001368918.2:c.1384dup
  • NM_001368919.2:c.1384dup
  • NM_001368920.2:c.1342dup
  • NM_001368921.2:c.957dup
  • NM_001368922.2:c.1108dup
  • NM_001368923.2:c.1108dup
  • NM_001368924.2:c.1108dup
  • NM_001368925.2:c.1108dup
  • NM_001368926.2:c.1108dup
  • NM_001368927.2:c.1108dup
  • NM_001368928.2:c.1066dup
  • NM_001368929.2:c.708dup
  • NM_001368930.2:c.664dup
  • NM_001604.6:c.1309dup
  • NM_019040.5:c.*6412dupMANE SELECT
  • NP_000271.1:p.Ter423LeuextTer?
  • NP_000271.1:p.Ter423Leufs
  • NP_001121084.1:p.Ter423LeuextTer?
  • NP_001245391.1:p.Ter437LeuextTer?
  • NP_001245392.1:p.Ter437LeuextTer?
  • NP_001245393.1:p.Ter423LeuextTer?
  • NP_001245394.1:p.Ter423LeuextTer?
  • NP_001297087.1:p.Ter437LeuextTer?
  • NP_001297089.1:p.Ter287LeuextTer?
  • NP_001297090.1:p.Ter287LeuextTer?
  • NP_001355816.1:p.Ter423LeuextTer?
  • NP_001355817.1:p.Ter423LeuextTer?
  • NP_001355818.1:p.Ter423LeuextTer?
  • NP_001355819.1:p.Ter423LeuextTer?
  • NP_001355820.1:p.Ter423LeuextTer?
  • NP_001355821.1:p.Ter437LeuextTer?
  • NP_001355822.1:p.Ter437LeuextTer?
  • NP_001355823.1:p.Ter437LeuextTer?
  • NP_001355828.1:p.Ter287LeuextTer?
  • NP_001355829.1:p.Ter287LeuextTer?
  • NP_001355830.1:p.Ter287LeuextTer?
  • NP_001355831.1:p.Ter287LeuextTer?
  • NP_001355832.1:p.Ter287LeuextTer?
  • NP_001355833.1:p.Ter287LeuextTer?
  • NP_001355834.1:p.Ter287LeuextTer?
  • NP_001355835.1:p.Ter287LeuextTer?
  • NP_001355836.1:p.Ter287LeuextTer?
  • NP_001355837.1:p.Ter287LeuextTer?
  • NP_001355838.1:p.Ter287LeuextTer?
  • NP_001355839.1:p.Ter504LeuextTer?
  • NP_001355840.1:p.Lys388Ter
  • NP_001355841.1:p.Lys387Ter
  • NP_001355842.1:p.Lys387Ter
  • NP_001355843.1:p.Lys387Ter
  • NP_001355844.1:p.Lys373Ter
  • NP_001355845.1:p.Lys373Ter
  • NP_001355846.1:p.Lys373Ter
  • NP_001355847.1:p.Ter462LeuextTer?
  • NP_001355848.1:p.Ter462LeuextTer?
  • NP_001355849.1:p.Ter448LeuextTer?
  • NP_001355850.1:p.Lys320Ter
  • NP_001355851.1:p.Ter370LeuextTer?
  • NP_001355852.1:p.Ter370LeuextTer?
  • NP_001355853.1:p.Ter370LeuextTer?
  • NP_001355854.1:p.Ter370LeuextTer?
  • NP_001355855.1:p.Ter370LeuextTer?
  • NP_001355856.1:p.Ter370LeuextTer?
  • NP_001355857.1:p.Ter356LeuextTer?
  • NP_001355858.1:p.Lys237Ter
  • NP_001355859.1:p.Ter222LeuextTer?
  • NP_001595.2:p.Ter437LeuextTer?
  • LRG_720t1:c.1267dup
  • LRG_720:g.33026dup
  • LRG_720p1:p.Ter423Leufs
  • NC_000011.9:g.31811484dup
  • NM_000280.3:c.1267dup
  • NM_000280.4:c.1267dupT
  • NM_001258462.1:c.1309dupT
  • NR_160916.2:n.1497dup
  • NR_160917.2:n.1653dup
Protein change:
K237*
Links:
dbSNP: rs1592348310
NCBI 1000 Genomes Browser:
rs1592348310
Molecular consequence:
  • NM_001288725.2:c.*6398dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001288726.2:c.*6507dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_019040.5:c.*6412dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000280.6:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127612.3:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258462.3:c.1309dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258463.2:c.1309dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258464.2:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258465.3:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310158.2:c.1309dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310160.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310161.3:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368887.2:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368888.2:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368889.2:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368890.2:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368891.2:c.1267dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368892.2:c.1309dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368893.2:c.1309dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368894.2:c.1309dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368899.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368900.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368901.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368902.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368903.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368904.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368905.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368906.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368907.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368908.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368909.2:c.859dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368910.2:c.1510dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368918.2:c.1384dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368919.2:c.1384dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368920.2:c.1342dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368922.2:c.1108dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368923.2:c.1108dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368924.2:c.1108dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368925.2:c.1108dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368926.2:c.1108dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368927.2:c.1108dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368928.2:c.1066dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368930.2:c.664dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001604.6:c.1309dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_160916.2:n.1497dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160917.2:n.1653dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001368911.2:c.1161dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368912.2:c.1158dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368913.2:c.1158dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368914.2:c.1158dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368915.2:c.1116dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368916.2:c.1116dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368917.2:c.1116dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368921.2:c.957dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368929.2:c.708dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000280.6:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001127612.3:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001258462.3:c.1309dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001258463.2:c.1309dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001258464.2:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001258465.3:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001310158.2:c.1309dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001310160.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001310161.3:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368887.2:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368888.2:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368889.2:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368890.2:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368891.2:c.1267dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368892.2:c.1309dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368893.2:c.1309dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368894.2:c.1309dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368899.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368900.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368901.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368902.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368903.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368904.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368905.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368906.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368907.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368908.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368909.2:c.859dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368910.2:c.1510dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368918.2:c.1384dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368919.2:c.1384dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368920.2:c.1342dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368922.2:c.1108dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368923.2:c.1108dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368924.2:c.1108dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368925.2:c.1108dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368926.2:c.1108dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368927.2:c.1108dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368928.2:c.1066dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001368930.2:c.664dup - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001604.6:c.1309dup - stop lost - [Sequence Ontology: SO:0001578]
Observations:
1

Condition(s)

Name:
Aniridia 1 (AN1)
Identifiers:
MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000996161Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jun 28, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004036017GeneReviews
no classification provided
not providedgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Hingorani M, Williamson KA, Moore AT, van Heyningen V.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2581-90. doi: 10.1167/iovs.08-2827. Epub 2009 Feb 14.

PubMed [citation]
PMID:
19218613
See all PubMed Citations (3)

Details of each submission

From Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego, SCV000996161.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This frameshifting variant is found in the stop codon and is expected to extend the protein by 36 amino acids. This variant has been previously reported as a heterozygous change in patients with aniridia (PMID: 10477494, 25555363). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.1309dupT (p.Ter437LeufsTer37) variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From GeneReviews, SCV004036017.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024