NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 9, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000413794.3

Allele description [Variation Report for NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)]

NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)

Gene:
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
HGVS:
  • NC_000011.10:g.31794690G>A
  • NG_008679.1:g.28272C>T
  • NM_000280.5:c.622C>T
  • NM_001127612.3:c.622C>T
  • NM_001258462.3:c.664C>T
  • NM_001258463.2:c.664C>T
  • NM_001258464.2:c.622C>T
  • NM_001258465.3:c.622C>T
  • NM_001310158.2:c.664C>T
  • NM_001310159.1:c.622C>T
  • NM_001310160.2:c.214C>T
  • NM_001310161.3:c.214C>T
  • NM_001368887.2:c.622C>T
  • NM_001368888.2:c.622C>T
  • NM_001368889.2:c.622C>T
  • NM_001368890.2:c.622C>T
  • NM_001368891.2:c.622C>T
  • NM_001368892.2:c.664C>T
  • NM_001368893.2:c.664C>T
  • NM_001368894.2:c.664C>TMANE SELECT
  • NM_001368899.2:c.214C>T
  • NM_001368900.2:c.214C>T
  • NM_001368901.2:c.214C>T
  • NM_001368902.2:c.214C>T
  • NM_001368903.2:c.214C>T
  • NM_001368904.2:c.214C>T
  • NM_001368905.2:c.214C>T
  • NM_001368906.2:c.214C>T
  • NM_001368907.2:c.214C>T
  • NM_001368908.2:c.214C>T
  • NM_001368909.2:c.214C>T
  • NM_001368910.2:c.865C>T
  • NM_001368911.2:c.667C>T
  • NM_001368912.2:c.664C>T
  • NM_001368913.2:c.664C>T
  • NM_001368914.2:c.664C>T
  • NM_001368915.2:c.622C>T
  • NM_001368916.2:c.622C>T
  • NM_001368917.2:c.622C>T
  • NM_001368918.2:c.739C>T
  • NM_001368919.2:c.739C>T
  • NM_001368920.2:c.697C>T
  • NM_001368921.2:c.463C>T
  • NM_001368922.2:c.463C>T
  • NM_001368923.2:c.463C>T
  • NM_001368924.2:c.463C>T
  • NM_001368925.2:c.463C>T
  • NM_001368926.2:c.463C>T
  • NM_001368927.2:c.463C>T
  • NM_001368928.2:c.421C>T
  • NM_001368929.2:c.214C>T
  • NM_001368930.2:c.19C>T
  • NM_001604.6:c.664C>T
  • NP_000271.1:p.Arg208Trp
  • NP_001121084.1:p.Arg208Trp
  • NP_001245391.1:p.Arg222Trp
  • NP_001245392.1:p.Arg222Trp
  • NP_001245393.1:p.Arg208Trp
  • NP_001245394.1:p.Arg208Trp
  • NP_001297087.1:p.Arg222Trp
  • NP_001297088.1:p.Arg208Trp
  • NP_001297089.1:p.Arg72Trp
  • NP_001297090.1:p.Arg72Trp
  • NP_001355816.1:p.Arg208Trp
  • NP_001355817.1:p.Arg208Trp
  • NP_001355818.1:p.Arg208Trp
  • NP_001355819.1:p.Arg208Trp
  • NP_001355820.1:p.Arg208Trp
  • NP_001355821.1:p.Arg222Trp
  • NP_001355822.1:p.Arg222Trp
  • NP_001355823.1:p.Arg222Trp
  • NP_001355828.1:p.Arg72Trp
  • NP_001355829.1:p.Arg72Trp
  • NP_001355830.1:p.Arg72Trp
  • NP_001355831.1:p.Arg72Trp
  • NP_001355832.1:p.Arg72Trp
  • NP_001355833.1:p.Arg72Trp
  • NP_001355834.1:p.Arg72Trp
  • NP_001355835.1:p.Arg72Trp
  • NP_001355836.1:p.Arg72Trp
  • NP_001355837.1:p.Arg72Trp
  • NP_001355838.1:p.Arg72Trp
  • NP_001355839.1:p.Arg289Trp
  • NP_001355840.1:p.Arg223Trp
  • NP_001355841.1:p.Arg222Trp
  • NP_001355842.1:p.Arg222Trp
  • NP_001355843.1:p.Arg222Trp
  • NP_001355844.1:p.Arg208Trp
  • NP_001355845.1:p.Arg208Trp
  • NP_001355846.1:p.Arg208Trp
  • NP_001355847.1:p.Arg247Trp
  • NP_001355848.1:p.Arg247Trp
  • NP_001355849.1:p.Arg233Trp
  • NP_001355850.1:p.Arg155Trp
  • NP_001355851.1:p.Arg155Trp
  • NP_001355852.1:p.Arg155Trp
  • NP_001355853.1:p.Arg155Trp
  • NP_001355854.1:p.Arg155Trp
  • NP_001355855.1:p.Arg155Trp
  • NP_001355856.1:p.Arg155Trp
  • NP_001355857.1:p.Arg141Trp
  • NP_001355858.1:p.Arg72Trp
  • NP_001355859.1:p.Arg7Trp
  • NP_001595.2:p.Arg222Trp
  • LRG_720t1:c.622C>T
  • LRG_720:g.28272C>T
  • NC_000011.9:g.31816238G>A
  • NM_000280.3:c.622C>T
  • NR_160916.2:n.1086C>T
  • NR_160917.2:n.1091C>T
  • p.(Arg208Trp)
Protein change:
R141W
Links:
dbSNP: rs757259413
NCBI 1000 Genomes Browser:
rs757259413
Molecular consequence:
  • NM_000280.5:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127612.3:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258462.3:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258463.2:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258464.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258465.3:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310158.2:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310159.1:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310160.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001310161.3:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368887.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368888.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368889.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368890.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368891.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368892.2:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368893.2:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368894.2:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368899.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368900.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368901.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368902.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368903.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368904.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368905.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368906.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368907.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368908.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368909.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368910.2:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368911.2:c.667C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368912.2:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368913.2:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368914.2:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368915.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368916.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368917.2:c.622C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368918.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368919.2:c.739C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368920.2:c.697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368921.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368922.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368923.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368924.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368925.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368926.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368927.2:c.463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368928.2:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368929.2:c.214C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368930.2:c.19C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001604.6:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160916.2:n.1086C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160917.2:n.1091C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490693GeneDxcriteria provided, single submitter
Likely pathogenic
(Sep 9, 2019)
germlineclinical testing

Citation Link,

SCV000708115EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely pathogenic
(May 8, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.

Lim HT, Seo EJ, Kim GH, Ahn H, Lee HJ, Shin KH, Lee JK, Yoo HW.

Ophthalmology. 2012 Jun;119(6):1258-64. doi: 10.1016/j.ophtha.2011.12.010. Epub 2012 Feb 22.

PubMed [citation]
PMID:
22361317

PAX6 mutations in aniridia.

Hanson IM, Seawright A, Hardman K, Hodgson S, Zaletayev D, Fekete G, van Heyningen V.

Hum Mol Genet. 1993 Jul;2(7):915-20.

PubMed [citation]
PMID:
8364574

Details of each submission

From GeneDx, SCV000490693.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 9147640, 12015275, 29450879, 7550230, 8364574, 9482572, 10234503, 22361317, 29930474, 10737978, 32360764)

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000708115.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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