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NM_001368894.2(PAX6):c.49_61del (p.Asn17fs) AND Aniridia 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 25, 2023
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:
RCV004587512.1

Allele description [Variation Report for NM_001368894.2(PAX6):c.49_61del (p.Asn17fs)]

NM_001368894.2(PAX6):c.49_61del (p.Asn17fs)

Gene:
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.49_61del (p.Asn17fs)
HGVS:
  • NC_000011.10:g.31802785_31802797del
  • NG_008679.1:g.20166_20178del
  • NM_000280.5:c.49_61del
  • NM_000280.6:c.49_61del
  • NM_001127612.3:c.49_61del
  • NM_001258462.3:c.49_61del
  • NM_001258463.2:c.49_61del
  • NM_001258464.2:c.49_61del
  • NM_001258465.3:c.49_61del
  • NM_001310158.2:c.49_61del
  • NM_001310159.1:c.49_61del
  • NM_001310160.2:c.-733_-721del
  • NM_001310161.3:c.-402_-390del
  • NM_001368887.2:c.49_61del
  • NM_001368888.2:c.49_61del
  • NM_001368889.2:c.49_61del
  • NM_001368890.2:c.49_61del
  • NM_001368891.2:c.49_61del
  • NM_001368892.2:c.49_61del
  • NM_001368893.2:c.49_61del
  • NM_001368894.2:c.49_61delMANE SELECT
  • NM_001368899.2:c.-360_-348del
  • NM_001368900.2:c.-402_-390del
  • NM_001368901.2:c.-360_-348del
  • NM_001368902.2:c.-691_-679del
  • NM_001368903.2:c.-402_-390del
  • NM_001368904.2:c.-267-1020_-267-1008del
  • NM_001368905.2:c.-733_-721del
  • NM_001368906.2:c.-360_-348del
  • NM_001368907.2:c.-360_-348del
  • NM_001368908.2:c.-402_-390del
  • NM_001368909.2:c.-267-1020_-267-1008del
  • NM_001368910.2:c.292_304del
  • NM_001368911.2:c.52_64del
  • NM_001368912.2:c.49_61del
  • NM_001368913.2:c.49_61del
  • NM_001368914.2:c.49_61del
  • NM_001368915.2:c.49_61del
  • NM_001368916.2:c.49_61del
  • NM_001368917.2:c.49_61del
  • NM_001368918.2:c.49_61del
  • NM_001368919.2:c.49_61del
  • NM_001368920.2:c.49_61del
  • NM_001368921.2:c.49_61del
  • NM_001368922.2:c.49_61del
  • NM_001368923.2:c.49_61del
  • NM_001368924.2:c.49_61del
  • NM_001368925.2:c.49_61del
  • NM_001368926.2:c.49_61del
  • NM_001368927.2:c.49_61del
  • NM_001368928.2:c.49_61del
  • NM_001368929.2:c.-402_-390del
  • NM_001604.6:c.49_61del
  • NP_000271.1:p.Asn17Cysfs
  • NP_000271.1:p.Asn17fs
  • NP_001121084.1:p.Asn17fs
  • NP_001245391.1:p.Asn17fs
  • NP_001245392.1:p.Asn17fs
  • NP_001245393.1:p.Asn17fs
  • NP_001245394.1:p.Asn17fs
  • NP_001297087.1:p.Asn17fs
  • NP_001297088.1:p.Asn17fs
  • NP_001355816.1:p.Asn17fs
  • NP_001355817.1:p.Asn17fs
  • NP_001355818.1:p.Asn17fs
  • NP_001355819.1:p.Asn17fs
  • NP_001355820.1:p.Asn17fs
  • NP_001355821.1:p.Asn17fs
  • NP_001355822.1:p.Asn17fs
  • NP_001355823.1:p.Asn17fs
  • NP_001355839.1:p.Asn98fs
  • NP_001355840.1:p.Asn18fs
  • NP_001355841.1:p.Asn17fs
  • NP_001355842.1:p.Asn17fs
  • NP_001355843.1:p.Asn17fs
  • NP_001355844.1:p.Asn17fs
  • NP_001355845.1:p.Asn17fs
  • NP_001355846.1:p.Asn17fs
  • NP_001355847.1:p.Asn17fs
  • NP_001355848.1:p.Asn17fs
  • NP_001355849.1:p.Asn17fs
  • NP_001355850.1:p.Asn17fs
  • NP_001355851.1:p.Asn17fs
  • NP_001355852.1:p.Asn17fs
  • NP_001355853.1:p.Asn17fs
  • NP_001355854.1:p.Asn17fs
  • NP_001355855.1:p.Asn17fs
  • NP_001355856.1:p.Asn17fs
  • NP_001355857.1:p.Asn17fs
  • NP_001595.2:p.Asn17fs
  • LRG_720t1:c.48_60del
  • LRG_720:g.20166_20178del
  • LRG_720p1:p.Asn17Cysfs
  • NC_000011.9:g.31824333_31824345del
  • NM_000280.3:c.48_60delCAACGGGCGGCCA
  • NR_160916.2:n.471_483del
  • NR_160917.2:n.518_530del
Protein change:
N17fs
Molecular consequence:
  • NM_001310160.2:c.-733_-721del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001310161.3:c.-402_-390del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368899.2:c.-360_-348del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368900.2:c.-402_-390del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368901.2:c.-360_-348del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368902.2:c.-691_-679del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368903.2:c.-402_-390del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368905.2:c.-733_-721del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368906.2:c.-360_-348del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368907.2:c.-360_-348del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368908.2:c.-402_-390del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001368929.2:c.-402_-390del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000280.6:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127612.3:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258462.3:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258463.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258464.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258465.3:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310158.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001310159.1:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368887.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368888.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368889.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368890.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368891.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368892.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368893.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368894.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368910.2:c.292_304del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368911.2:c.52_64del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368912.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368913.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368914.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368915.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368916.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368917.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368918.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368919.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368920.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368921.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368922.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368923.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368924.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368925.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368926.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368927.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368928.2:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001604.6:c.49_61del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001368904.2:c.-267-1020_-267-1008del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368909.2:c.-267-1020_-267-1008del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_160916.2:n.471_483del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_160917.2:n.518_530del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004242327Eye & ENT Hospital, Shanghai Medical College, Fudan University
criteria provided, single submitter

(ACMG Guidelines, 2007)		Likely pathogenic
(Dec 25, 2023) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asiande novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee.

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Eye & ENT Hospital, Shanghai Medical College, Fudan University, SCV004242327.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asiannot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 23, 2024