NM_001368894.2(PAX6):c.1282dup (p.Met428fs) AND Aniridia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000984465.2

Allele description [Variation Report for NM_001368894.2(PAX6):c.1282dup (p.Met428fs)]

NM_001368894.2(PAX6):c.1282dup (p.Met428fs)

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.1282dup (p.Met428fs)

HGVS:

NC_000011.10:g.31789963dup
NG_008679.1:g.32999dup
NG_034086.2:g.285198dup
NM_000280.6:c.1240dup
NM_001127612.3:c.1240dup
NM_001258462.3:c.1282dup
NM_001258463.2:c.1282dup
NM_001258464.2:c.1240dup
NM_001258465.3:c.1240dup
NM_001288725.2:c.*6425dup
NM_001288726.2:c.*6534dup
NM_001310158.2:c.1282dup
NM_001310160.2:c.832dup
NM_001310161.3:c.832dup
NM_001368887.2:c.1240dup
NM_001368888.2:c.1240dup
NM_001368889.2:c.1240dup
NM_001368890.2:c.1240dup
NM_001368891.2:c.1240dup
NM_001368892.2:c.1282dup
NM_001368893.2:c.1282dup
NM_001368894.2:c.1282dupMANE SELECT
NM_001368899.2:c.832dup
NM_001368900.2:c.832dup
NM_001368901.2:c.832dup
NM_001368902.2:c.832dup
NM_001368903.2:c.832dup
NM_001368904.2:c.832dup
NM_001368905.2:c.832dup
NM_001368906.2:c.832dup
NM_001368907.2:c.832dup
NM_001368908.2:c.832dup
NM_001368909.2:c.832dup
NM_001368910.2:c.1483dup
NM_001368911.2:c.1134dup
NM_001368912.2:c.1131dup
NM_001368913.2:c.1131dup
NM_001368914.2:c.1131dup
NM_001368915.2:c.1089dup
NM_001368916.2:c.1089dup
NM_001368917.2:c.1089dup
NM_001368918.2:c.1357dup
NM_001368919.2:c.1357dup
NM_001368920.2:c.1315dup
NM_001368921.2:c.930dup
NM_001368922.2:c.1081dup
NM_001368923.2:c.1081dup
NM_001368924.2:c.1081dup
NM_001368925.2:c.1081dup
NM_001368926.2:c.1081dup
NM_001368927.2:c.1081dup
NM_001368928.2:c.1039dup
NM_001368929.2:c.681dup
NM_001368930.2:c.637dup
NM_001604.6:c.1282dup
NM_019040.5:c.*6439dupMANE SELECT
NP_000271.1:p.Met414Asnfs
NP_000271.1:p.Met414fs
NP_001121084.1:p.Met414fs
NP_001245391.1:p.Met428fs
NP_001245392.1:p.Met428fs
NP_001245393.1:p.Met414fs
NP_001245394.1:p.Met414fs
NP_001297087.1:p.Met428fs
NP_001297089.1:p.Met278fs
NP_001297090.1:p.Met278fs
NP_001355816.1:p.Met414fs
NP_001355817.1:p.Met414fs
NP_001355818.1:p.Met414fs
NP_001355819.1:p.Met414fs
NP_001355820.1:p.Met414fs
NP_001355821.1:p.Met428fs
NP_001355822.1:p.Met428fs
NP_001355823.1:p.Met428fs
NP_001355828.1:p.Met278fs
NP_001355829.1:p.Met278fs
NP_001355830.1:p.Met278fs
NP_001355831.1:p.Met278fs
NP_001355832.1:p.Met278fs
NP_001355833.1:p.Met278fs
NP_001355834.1:p.Met278fs
NP_001355835.1:p.Met278fs
NP_001355836.1:p.Met278fs
NP_001355837.1:p.Met278fs
NP_001355838.1:p.Met278fs
NP_001355839.1:p.Met495fs
NP_001355840.1:p.Cys379fs
NP_001355841.1:p.Cys378fs
NP_001355842.1:p.Cys378fs
NP_001355843.1:p.Cys378fs
NP_001355844.1:p.Cys364fs
NP_001355845.1:p.Cys364fs
NP_001355846.1:p.Cys364fs
NP_001355847.1:p.Met453fs
NP_001355848.1:p.Met453fs
NP_001355849.1:p.Met439fs
NP_001355850.1:p.Cys311fs
NP_001355851.1:p.Met361fs
NP_001355852.1:p.Met361fs
NP_001355853.1:p.Met361fs
NP_001355854.1:p.Met361fs
NP_001355855.1:p.Met361fs
NP_001355856.1:p.Met361fs
NP_001355857.1:p.Met347fs
NP_001355858.1:p.Cys228fs
NP_001355859.1:p.Met213fs
NP_001595.2:p.Met428fs
LRG_720t1:c.1240dup
LRG_720:g.32999dup
LRG_720p1:p.Met414Asnfs
NC_000011.9:g.31811511dup
NM_000280.3:c.1240dup
NR_160916.2:n.1470dup
NR_160917.2:n.1626dup
p.(Met414AsnfsTer46)

Protein change:

C228fs

Links:

dbSNP: rs1592349567

NCBI 1000 Genomes Browser:

rs1592349567

Molecular consequence:

NM_001288725.2:c.*6425dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288726.2:c.*6534dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_019040.5:c.*6439dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000280.6:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127612.3:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258462.3:c.1282dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258463.2:c.1282dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258464.2:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001258465.3:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001310158.2:c.1282dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001310160.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001310161.3:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368887.2:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368888.2:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368889.2:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368890.2:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368891.2:c.1240dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368892.2:c.1282dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368893.2:c.1282dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368894.2:c.1282dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368899.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368900.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368901.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368902.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368903.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368904.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368905.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368906.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368907.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368908.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368909.2:c.832dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368910.2:c.1483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368911.2:c.1134dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368912.2:c.1131dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368913.2:c.1131dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368914.2:c.1131dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368915.2:c.1089dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368916.2:c.1089dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368917.2:c.1089dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368918.2:c.1357dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368919.2:c.1357dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368920.2:c.1315dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368921.2:c.930dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368922.2:c.1081dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368923.2:c.1081dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368924.2:c.1081dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368925.2:c.1081dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368926.2:c.1081dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368927.2:c.1081dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368928.2:c.1039dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368929.2:c.681dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001368930.2:c.637dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001604.6:c.1282dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_160916.2:n.1470dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_160917.2:n.1626dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

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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
LIPM lipase family member M [Homo sapiens]
LIPM lipase family member M [Homo sapiens]
Gene ID:340654

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001055825	Wessex Regional Genetics Laboratory, Salisbury District Hospital	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic (Aug 15, 2019)	inherited	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

SCV001055825

Wessex Regional Genetics Laboratory, Salisbury District Hospital

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic
(Aug 15, 2019)

inherited

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	inherited	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 Wessex Regional Genetics Laboratory, Salisbury District Hospital, SCV001055825.1

#	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	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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