NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter) AND Aniridia 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 15, 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:: RCV000984460.3

Allele description [Variation Report for NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)]

NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)

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.1130C>A (p.Ser377Ter)

HGVS:

NC_000011.10:g.31790805G>T
NG_008679.1:g.32157C>A
NM_000280.6:c.1088C>A
NM_001127612.3:c.1088C>A
NM_001258462.3:c.1130C>A
NM_001258463.2:c.1130C>A
NM_001258464.2:c.1088C>A
NM_001258465.3:c.1088C>A
NM_001310158.2:c.1130C>A
NM_001310160.2:c.680C>A
NM_001310161.3:c.680C>A
NM_001368887.2:c.1088C>A
NM_001368888.2:c.1088C>A
NM_001368889.2:c.1088C>A
NM_001368890.2:c.1088C>A
NM_001368891.2:c.1088C>A
NM_001368892.2:c.1130C>A
NM_001368893.2:c.1130C>A
NM_001368894.2:c.1130C>AMANE SELECT
NM_001368899.2:c.680C>A
NM_001368900.2:c.680C>A
NM_001368901.2:c.680C>A
NM_001368902.2:c.680C>A
NM_001368903.2:c.680C>A
NM_001368904.2:c.680C>A
NM_001368905.2:c.680C>A
NM_001368906.2:c.680C>A
NM_001368907.2:c.680C>A
NM_001368908.2:c.680C>A
NM_001368909.2:c.680C>A
NM_001368910.2:c.1331C>A
NM_001368911.2:c.1078-786C>A
NM_001368912.2:c.1075-786C>A
NM_001368913.2:c.1075-786C>A
NM_001368914.2:c.1075-786C>A
NM_001368915.2:c.1033-786C>A
NM_001368916.2:c.1033-786C>A
NM_001368917.2:c.1033-786C>A
NM_001368918.2:c.1205C>A
NM_001368919.2:c.1205C>A
NM_001368920.2:c.1163C>A
NM_001368921.2:c.874-786C>A
NM_001368922.2:c.929C>A
NM_001368923.2:c.929C>A
NM_001368924.2:c.929C>A
NM_001368925.2:c.929C>A
NM_001368926.2:c.929C>A
NM_001368927.2:c.929C>A
NM_001368928.2:c.887C>A
NM_001368929.2:c.625-786C>A
NM_001368930.2:c.485C>A
NM_001604.6:c.1130C>A
NP_000271.1:p.Ser363Ter
NP_001121084.1:p.Ser363Ter
NP_001245391.1:p.Ser377Ter
NP_001245392.1:p.Ser377Ter
NP_001245393.1:p.Ser363Ter
NP_001245394.1:p.Ser363Ter
NP_001297087.1:p.Ser377Ter
NP_001297089.1:p.Ser227Ter
NP_001297090.1:p.Ser227Ter
NP_001355816.1:p.Ser363Ter
NP_001355817.1:p.Ser363Ter
NP_001355818.1:p.Ser363Ter
NP_001355819.1:p.Ser363Ter
NP_001355820.1:p.Ser363Ter
NP_001355821.1:p.Ser377Ter
NP_001355822.1:p.Ser377Ter
NP_001355823.1:p.Ser377Ter
NP_001355828.1:p.Ser227Ter
NP_001355829.1:p.Ser227Ter
NP_001355830.1:p.Ser227Ter
NP_001355831.1:p.Ser227Ter
NP_001355832.1:p.Ser227Ter
NP_001355833.1:p.Ser227Ter
NP_001355834.1:p.Ser227Ter
NP_001355835.1:p.Ser227Ter
NP_001355836.1:p.Ser227Ter
NP_001355837.1:p.Ser227Ter
NP_001355838.1:p.Ser227Ter
NP_001355839.1:p.Ser444Ter
NP_001355847.1:p.Ser402Ter
NP_001355848.1:p.Ser402Ter
NP_001355849.1:p.Ser388Ter
NP_001355851.1:p.Ser310Ter
NP_001355852.1:p.Ser310Ter
NP_001355853.1:p.Ser310Ter
NP_001355854.1:p.Ser310Ter
NP_001355855.1:p.Ser310Ter
NP_001355856.1:p.Ser310Ter
NP_001355857.1:p.Ser296Ter
NP_001355859.1:p.Ser162Ter
NP_001595.2:p.Ser377Ter
LRG_720t1:c.1088C>A
LRG_720:g.32157C>A
NC_000011.9:g.31812353G>T
NM_000280.3:c.1088C>A
NR_160917.2:n.1474C>A
p.(Ser363Ter)

Protein change:

S162*

Links:

dbSNP: rs1411880763

NCBI 1000 Genomes Browser:

rs1411880763

Molecular consequence:

NM_001368911.2:c.1078-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368912.2:c.1075-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368913.2:c.1075-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368914.2:c.1075-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368915.2:c.1033-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368916.2:c.1033-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368917.2:c.1033-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368921.2:c.874-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368929.2:c.625-786C>A - intron variant - [Sequence Ontology: SO:0001627]
NR_160917.2:n.1474C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000280.6:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127612.3:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001258462.3:c.1130C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001258463.2:c.1130C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001258464.2:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001258465.3:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001310158.2:c.1130C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001310160.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001310161.3:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368887.2:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368888.2:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368889.2:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368890.2:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368891.2:c.1088C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368892.2:c.1130C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368893.2:c.1130C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368894.2:c.1130C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368899.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368900.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368901.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368902.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368903.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368904.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368905.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368906.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368907.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368908.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368909.2:c.680C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368910.2:c.1331C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368918.2:c.1205C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368919.2:c.1205C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368920.2:c.1163C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368922.2:c.929C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368923.2:c.929C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368924.2:c.929C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368925.2:c.929C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368926.2:c.929C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368927.2:c.929C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368928.2:c.887C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001368930.2:c.485C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001604.6:c.1130C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001055819	Wessex Regional Genetics Laboratory, Salisbury District Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 15, 2019)	de novo, 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

SCV001055819

Wessex Regional Genetics Laboratory, Salisbury District Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 15, 2019)

de novo, 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	de novo	yes	1	not provided	not provided	1	not provided	clinical testing
not provided	inherited	yes	1	not provided	not provided	1	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, SCV001055819.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	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	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	inherited	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 12, 2024

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