NM_000280.4(PAX6):c.*2160G>A AND Foveal hypoplasia and presenile cataract syndrome

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000376648.1

Allele description

NM_000280.4(PAX6):c.*2160G>A

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.*2160G>A
HGVS:
  • NC_000011.10:g.31787774C>T
  • NG_008679.1:g.35188G>A
  • NM_000280.4:c.*2160G>A
  • LRG_720:g.35188G>A
  • NC_000011.9:g.31809322C>T
Links:
dbSNP: rs12421026
GMAF:
0.4479(T), 12421026
NCBI 1000 Genomes Browser:
rs12421026
Molecular consequence:
  • NM_000280.4:c.*2160G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Foveal hypoplasia and presenile cataract syndrome (FVH1)
Synonyms:
FOVEAL HYPOPLASIA 1; FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT; FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES
Identifiers:
MedGen: C1850992; Orphanet: 2253; OMIM: 136520
Age of onset:
Adult
Prevalence:
<1 / 1 000 000 2253

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000370956Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000370956.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017