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NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 2, 2019
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:
RCV001213235.4

Allele description [Variation Report for NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs)]

NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs)

Gene:
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs)
HGVS:
  • NC_000011.10:g.31793484_31793490del
  • NG_008679.1:g.29474_29480del
  • NM_000280.6:c.982_988del
  • NM_001127612.3:c.982_988del
  • NM_001258462.3:c.1024_1030del
  • NM_001258463.2:c.1024_1030del
  • NM_001258464.2:c.982_988del
  • NM_001258465.3:c.982_988del
  • NM_001310158.2:c.1024_1030del
  • NM_001310159.1:c.982_988del
  • NM_001310160.2:c.574_580del
  • NM_001310161.3:c.574_580del
  • NM_001368887.2:c.982_988del
  • NM_001368888.2:c.982_988del
  • NM_001368889.2:c.982_988del
  • NM_001368890.2:c.982_988del
  • NM_001368891.2:c.982_988del
  • NM_001368892.2:c.1024_1030del
  • NM_001368893.2:c.1024_1030del
  • NM_001368894.2:c.1024_1030delMANE SELECT
  • NM_001368899.2:c.574_580del
  • NM_001368900.2:c.574_580del
  • NM_001368901.2:c.574_580del
  • NM_001368902.2:c.574_580del
  • NM_001368903.2:c.574_580del
  • NM_001368904.2:c.574_580del
  • NM_001368905.2:c.574_580del
  • NM_001368906.2:c.574_580del
  • NM_001368907.2:c.574_580del
  • NM_001368908.2:c.574_580del
  • NM_001368909.2:c.574_580del
  • NM_001368910.2:c.1225_1231del
  • NM_001368911.2:c.1027_1033del
  • NM_001368912.2:c.1024_1030del
  • NM_001368913.2:c.1024_1030del
  • NM_001368914.2:c.1024_1030del
  • NM_001368915.2:c.982_988del
  • NM_001368916.2:c.982_988del
  • NM_001368917.2:c.982_988del
  • NM_001368918.2:c.1099_1105del
  • NM_001368919.2:c.1099_1105del
  • NM_001368920.2:c.1057_1063del
  • NM_001368921.2:c.823_829del
  • NM_001368922.2:c.823_829del
  • NM_001368923.2:c.823_829del
  • NM_001368924.2:c.823_829del
  • NM_001368925.2:c.823_829del
  • NM_001368926.2:c.823_829del
  • NM_001368927.2:c.823_829del
  • NM_001368928.2:c.781_787del
  • NM_001368929.2:c.574_580del
  • NM_001368930.2:c.379_385del
  • NM_001604.6:c.1024_1030del
  • NP_000271.1:p.Ala328fs
  • NP_001121084.1:p.Ala328fs
  • NP_001245391.1:p.Ala342fs
  • NP_001245392.1:p.Ala342fs
  • NP_001245393.1:p.Ala328fs
  • NP_001245394.1:p.Ala328fs
  • NP_001297087.1:p.Ala342fs
  • NP_001297088.1:p.Ala328fs
  • NP_001297089.1:p.Ala192fs
  • NP_001297090.1:p.Ala192fs
  • NP_001355816.1:p.Ala328fs
  • NP_001355817.1:p.Ala328fs
  • NP_001355818.1:p.Ala328fs
  • NP_001355819.1:p.Ala328fs
  • NP_001355820.1:p.Ala328fs
  • NP_001355821.1:p.Ala342fs
  • NP_001355822.1:p.Ala342fs
  • NP_001355823.1:p.Ala342fs
  • NP_001355828.1:p.Ala192fs
  • NP_001355829.1:p.Ala192fs
  • NP_001355830.1:p.Ala192fs
  • NP_001355831.1:p.Ala192fs
  • NP_001355832.1:p.Ala192fs
  • NP_001355833.1:p.Ala192fs
  • NP_001355834.1:p.Ala192fs
  • NP_001355835.1:p.Ala192fs
  • NP_001355836.1:p.Ala192fs
  • NP_001355837.1:p.Ala192fs
  • NP_001355838.1:p.Ala192fs
  • NP_001355839.1:p.Ala409fs
  • NP_001355840.1:p.Ala343fs
  • NP_001355841.1:p.Ala342fs
  • NP_001355842.1:p.Ala342fs
  • NP_001355843.1:p.Ala342fs
  • NP_001355844.1:p.Ala328fs
  • NP_001355845.1:p.Ala328fs
  • NP_001355846.1:p.Ala328fs
  • NP_001355847.1:p.Ala367fs
  • NP_001355848.1:p.Ala367fs
  • NP_001355849.1:p.Ala353fs
  • NP_001355850.1:p.Ala275fs
  • NP_001355851.1:p.Ala275fs
  • NP_001355852.1:p.Ala275fs
  • NP_001355853.1:p.Ala275fs
  • NP_001355854.1:p.Ala275fs
  • NP_001355855.1:p.Ala275fs
  • NP_001355856.1:p.Ala275fs
  • NP_001355857.1:p.Ala261fs
  • NP_001355858.1:p.Ala192fs
  • NP_001355859.1:p.Ala127fs
  • NP_001595.2:p.Ala342fs
  • LRG_720:g.29474_29480del
  • NC_000011.9:g.31815030_31815036del
  • NC_000011.9:g.31815032_31815038del
  • NM_000280.4:c.982_988del
  • NR_160916.2:n.1363_1369del
  • NR_160917.2:n.1368_1374del
Protein change:
A127fs
Links:
dbSNP: rs1950522383
NCBI 1000 Genomes Browser:
rs1950522383
Molecular consequence:
  • NM_000280.6:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127612.3:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258462.3:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258463.2:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258464.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258465.3:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310158.2:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310159.1:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310160.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310161.3:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368887.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368888.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368889.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368890.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368891.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368892.2:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368893.2:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368894.2:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368899.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368900.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368901.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368902.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368903.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368904.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368905.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368906.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368907.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368908.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368909.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368910.2:c.1225_1231del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368911.2:c.1027_1033del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368912.2:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368913.2:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368914.2:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368915.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368916.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368917.2:c.982_988del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368918.2:c.1099_1105del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368919.2:c.1099_1105del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368920.2:c.1057_1063del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368921.2:c.823_829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368922.2:c.823_829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368923.2:c.823_829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368924.2:c.823_829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368925.2:c.823_829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368926.2:c.823_829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368927.2:c.823_829del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368928.2:c.781_787del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368929.2:c.574_580del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368930.2:c.379_385del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001604.6:c.1024_1030del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_160916.2:n.1363_1369del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160917.2:n.1368_1374del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aniridia 1 (AN1)
Identifiers:
MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210
Name:
Irido-corneo-trabecular dysgenesis (ASGD5)
Synonyms:
ANTERIOR SEGMENT DYSGENESIS 5
Identifiers:
MONDO: MONDO:0011414; MedGen: C0344559; Orphanet: 708; OMIM: 604229; Human Phenotype Ontology: HP:0000659

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001384856Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 2, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

Vincent MC, Pujo AL, Olivier D, Calvas P.

Eur J Hum Genet. 2003 Feb;11(2):163-9.

PubMed [citation]
PMID:
12634864

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001384856.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Ala328Argfs*35) in the PAX6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PAX6-related conditions. Loss-of-function variants in PAX6 are known to be pathogenic (PMID: 12634864). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024