NM_000280.4(PAX6):c.916+1G>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000414749.1

Allele description [Variation Report for NM_000280.4(PAX6):c.916+1G>C]

NM_000280.4(PAX6):c.916+1G>C

Gene:
PAX6:paired box 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_000280.4(PAX6):c.916+1G>C
HGVS:
  • NC_000011.10:g.31793651C>G
  • NG_008679.1:g.29311G>C
  • NM_000280.4:c.916+1G>C
  • LRG_720:g.29311G>C
  • NC_000011.9:g.31815199C>G
  • NM_000280.3:c.916+1G>C
Links:
dbSNP: rs1057517783
NCBI 1000 Genomes Browser:
rs1057517783
Molecular consequence:
  • NM_000280.4:c.916+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490694GeneDxcriteria provided, single submitter
Pathogenic
(Nov 8, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000490694.1

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

Description

The c.916+1 G>C splice site variant in the PAX6 gene has been previously reported in association with aniridia (Grønskov et al., 2001), and is consistent with the diagnosis in this patient. This pathogenic variant destroys the canonical splice donor site in intron 10, and is expected to cause abnormal gene splicing. Reverse transcription PCR analysis indicated that the c.916+1 G>C splice site variant results in the skipping of exon 10 (Grønskov et al., 2001).

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

Last Updated: Nov 3, 2018