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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2022
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:: RCV002463362.2

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

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

Genes:

ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]
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_000280.6: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_001604.5:c.664C>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_000280.6: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]

Condition(s)

Name:: Foveal hypoplasia 1
Synonyms:: Foveal hypoplasia and presenile cataract syndrome; FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT; FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES
Identifiers:: MONDO: MONDO:0007628; MedGen: C3805604; Orphanet: 2253; OMIM: 136520

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

Recent activity

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SRS2524997 (1)
SRA
SRS1613990 (3)
SRA
Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA
Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA
gi|148235698|ref|NM_020459.1|

Nucleotide
SRP083158 (1)
SRA
Glycosyltransferase [Streptococcus suis]
Glycosyltransferase [Streptococcus suis]
gi|1139490665|gb|APZ79396.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002757803	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 1, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002757803

Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 1, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

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

Details of each submission

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV002757803.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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