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NM_001368894.2(PAX6):c.1225+1_1225+8delinsC AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 21, 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:
RCV003323001.1

Allele description [Variation Report for NM_001368894.2(PAX6):c.1225+1_1225+8delinsC]

NM_001368894.2(PAX6):c.1225+1_1225+8delinsC

Gene:
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_001368894.2(PAX6):c.1225+1_1225+8delinsC
HGVS:
  • NC_000011.10:g.31790702_31790709delinsG
  • NG_008679.1:g.32253_32260delinsC
  • NG_034086.2:g.285937_285944delinsG
  • NM_000280.6:c.1183+1_1183+8delinsC
  • NM_001127612.3:c.1183+1_1183+8delinsC
  • NM_001258462.3:c.1225+1_1225+8delinsC
  • NM_001258463.2:c.1225+1_1225+8delinsC
  • NM_001258464.2:c.1183+1_1183+8delinsC
  • NM_001258465.3:c.1183+1_1183+8delinsC
  • NM_001310158.2:c.1225+1_1225+8delinsC
  • NM_001310160.2:c.775+1_775+8delinsC
  • NM_001310161.3:c.775+1_775+8delinsC
  • NM_001368887.2:c.1183+1_1183+8delinsC
  • NM_001368888.2:c.1183+1_1183+8delinsC
  • NM_001368889.2:c.1183+1_1183+8delinsC
  • NM_001368890.2:c.1183+1_1183+8delinsC
  • NM_001368891.2:c.1183+1_1183+8delinsC
  • NM_001368892.2:c.1225+1_1225+8delinsC
  • NM_001368893.2:c.1225+1_1225+8delinsC
  • NM_001368894.2:c.1225+1_1225+8delinsCMANE SELECT
  • NM_001368899.2:c.775+1_775+8delinsC
  • NM_001368900.2:c.775+1_775+8delinsC
  • NM_001368901.2:c.775+1_775+8delinsC
  • NM_001368902.2:c.775+1_775+8delinsC
  • NM_001368903.2:c.775+1_775+8delinsC
  • NM_001368904.2:c.775+1_775+8delinsC
  • NM_001368905.2:c.775+1_775+8delinsC
  • NM_001368906.2:c.775+1_775+8delinsC
  • NM_001368907.2:c.775+1_775+8delinsC
  • NM_001368908.2:c.775+1_775+8delinsC
  • NM_001368909.2:c.775+1_775+8delinsC
  • NM_001368910.2:c.1426+1_1426+8delinsC
  • NM_001368911.2:c.1078-690_1078-683delinsC
  • NM_001368912.2:c.1075-690_1075-683delinsC
  • NM_001368913.2:c.1075-690_1075-683delinsC
  • NM_001368914.2:c.1075-690_1075-683delinsC
  • NM_001368915.2:c.1033-690_1033-683delinsC
  • NM_001368916.2:c.1033-690_1033-683delinsC
  • NM_001368917.2:c.1033-690_1033-683delinsC
  • NM_001368918.2:c.1300+1_1300+8delinsC
  • NM_001368919.2:c.1300+1_1300+8delinsC
  • NM_001368920.2:c.1258+1_1258+8delinsC
  • NM_001368921.2:c.874-690_874-683delinsC
  • NM_001368922.2:c.1024+1_1024+8delinsC
  • NM_001368923.2:c.1024+1_1024+8delinsC
  • NM_001368924.2:c.1024+1_1024+8delinsC
  • NM_001368925.2:c.1024+1_1024+8delinsC
  • NM_001368926.2:c.1024+1_1024+8delinsC
  • NM_001368927.2:c.1024+1_1024+8delinsC
  • NM_001368928.2:c.982+1_982+8delinsC
  • NM_001368929.2:c.625-690_625-683delinsC
  • NM_001368930.2:c.580+1_580+8delinsC
  • NM_001604.6:c.1225+1_1225+8delinsC
  • LRG_720:g.32253_32260delinsC
  • NC_000011.9:g.31812250_31812257delinsG
Molecular consequence:
  • NM_001368911.2:c.1078-690_1078-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368912.2:c.1075-690_1075-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368913.2:c.1075-690_1075-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368914.2:c.1075-690_1075-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368915.2:c.1033-690_1033-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368916.2:c.1033-690_1033-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368917.2:c.1033-690_1033-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368921.2:c.874-690_874-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368929.2:c.625-690_625-683delinsC - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000280.6:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127612.3:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258462.3:c.1225+1_1225+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258463.2:c.1225+1_1225+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258464.2:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258465.3:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001310158.2:c.1225+1_1225+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001310160.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001310161.3:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368887.2:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368888.2:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368889.2:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368890.2:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368891.2:c.1183+1_1183+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368892.2:c.1225+1_1225+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368893.2:c.1225+1_1225+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368894.2:c.1225+1_1225+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368899.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368900.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368901.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368902.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368903.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368904.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368905.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368906.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368907.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368908.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368909.2:c.775+1_775+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368910.2:c.1426+1_1426+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368918.2:c.1300+1_1300+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368919.2:c.1300+1_1300+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368920.2:c.1258+1_1258+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368922.2:c.1024+1_1024+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368923.2:c.1024+1_1024+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368924.2:c.1024+1_1024+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368925.2:c.1024+1_1024+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368926.2:c.1024+1_1024+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368927.2:c.1024+1_1024+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368928.2:c.982+1_982+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368930.2:c.580+1_580+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001604.6:c.1225+1_1225+8delinsC - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004027946GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Feb 21, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV004027946.1

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

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Aug 26, 2023