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NM_001368894.2(PAX6):c.958+4A>T AND not provided

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Apr 1, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV002253994.13

Allele description [Variation Report for NM_001368894.2(PAX6):c.958+4A>T]

NM_001368894.2(PAX6):c.958+4A>T

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.958+4A>T
HGVS:
  • NC_000011.10:g.31793648T>A
  • NG_008679.1:g.29314A>T
  • NM_000280.6:c.916+4A>T
  • NM_001127612.3:c.916+4A>T
  • NM_001258462.3:c.958+4A>T
  • NM_001258463.2:c.958+4A>T
  • NM_001258464.2:c.916+4A>T
  • NM_001258465.3:c.916+4A>T
  • NM_001310158.2:c.958+4A>T
  • NM_001310159.1:c.916+4A>T
  • NM_001310160.2:c.508+4A>T
  • NM_001310161.3:c.508+4A>T
  • NM_001368887.2:c.916+4A>T
  • NM_001368888.2:c.916+4A>T
  • NM_001368889.2:c.916+4A>T
  • NM_001368890.2:c.916+4A>T
  • NM_001368891.2:c.916+4A>T
  • NM_001368892.2:c.958+4A>T
  • NM_001368893.2:c.958+4A>T
  • NM_001368894.2:c.958+4A>TMANE SELECT
  • NM_001368899.2:c.508+4A>T
  • NM_001368900.2:c.508+4A>T
  • NM_001368901.2:c.508+4A>T
  • NM_001368902.2:c.508+4A>T
  • NM_001368903.2:c.508+4A>T
  • NM_001368904.2:c.508+4A>T
  • NM_001368905.2:c.508+4A>T
  • NM_001368906.2:c.508+4A>T
  • NM_001368907.2:c.508+4A>T
  • NM_001368908.2:c.508+4A>T
  • NM_001368909.2:c.508+4A>T
  • NM_001368910.2:c.1159+4A>T
  • NM_001368911.2:c.961+4A>T
  • NM_001368912.2:c.958+4A>T
  • NM_001368913.2:c.958+4A>T
  • NM_001368914.2:c.958+4A>T
  • NM_001368915.2:c.916+4A>T
  • NM_001368916.2:c.916+4A>T
  • NM_001368917.2:c.916+4A>T
  • NM_001368918.2:c.1033+4A>T
  • NM_001368919.2:c.1033+4A>T
  • NM_001368920.2:c.991+4A>T
  • NM_001368921.2:c.757+4A>T
  • NM_001368922.2:c.757+4A>T
  • NM_001368923.2:c.757+4A>T
  • NM_001368924.2:c.757+4A>T
  • NM_001368925.2:c.757+4A>T
  • NM_001368926.2:c.757+4A>T
  • NM_001368927.2:c.757+4A>T
  • NM_001368928.2:c.715+4A>T
  • NM_001368929.2:c.508+4A>T
  • NM_001368930.2:c.313+4A>T
  • NM_001604.6:c.958+4A>T
  • LRG_720:g.29314A>T
  • NC_000011.9:g.31815196T>A
Links:
dbSNP: rs765926181
NCBI 1000 Genomes Browser:
rs765926181
Molecular consequence:
  • NM_000280.6:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127612.3:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258462.3:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258463.2:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258464.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001258465.3:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001310158.2:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001310159.1:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001310160.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001310161.3:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368887.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368888.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368889.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368890.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368891.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368892.2:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368893.2:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368894.2:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368899.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368900.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368901.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368902.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368903.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368904.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368905.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368906.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368907.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368908.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368909.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368910.2:c.1159+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368911.2:c.961+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368912.2:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368913.2:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368914.2:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368915.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368916.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368917.2:c.916+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368918.2:c.1033+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368919.2:c.1033+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368920.2:c.991+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368921.2:c.757+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368922.2:c.757+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368923.2:c.757+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368924.2:c.757+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368925.2:c.757+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368926.2:c.757+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368927.2:c.757+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368928.2:c.715+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368929.2:c.508+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368930.2:c.313+4A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001604.6:c.958+4A>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002525244GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 26, 2022) 		germlineclinical testing

Citation Link,

SCV004129963CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Apr 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV002525244.2

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

Description

In silico analysis supports that this variant does not alter splicing; 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

From CeGaT Center for Human Genetics Tuebingen, SCV004129963.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PAX6: BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024