NM_000280.4(PAX6):c.*2705_*2707delAGC AND Foveal hypoplasia 1

NM_000280.4(PAX6):c.2705_2707delAGC AND Foveal hypoplasia 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000341992.14

Allele description [Variation Report for NM_000280.4(PAX6):c.2705_2707delAGC]

NM_000280.4(PAX6):c.2705_2707delAGC

Genes:

PAX6:paired box 6 [Gene - OMIM - HGNC]
ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p13

Genomic location:

Preferred name:

NM_000280.4(PAX6):c.*2705_*2707delAGC

HGVS:

NC_000011.10:g.31787227_31787229del
NG_008679.1:g.35733_35735del
NG_034086.2:g.282462_282464del
NM_000280.4:c.*2705_*2707delAGC
NM_001288725.2:c.*3689_*3691del
NM_001288726.2:c.*3798_*3800del
NM_019040.5:c.*3703_*3705delMANE SELECT
LRG_720:g.35733_35735del
NC_000011.9:g.31808775_31808777del
NM_000280.4:c.*2705_*2707delAGC

Links:

dbSNP: rs886048189

NCBI 1000 Genomes Browser:

rs886048189

Molecular consequence:

NM_001288725.2:c.*3689_*3691del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001288726.2:c.*3798_*3800del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_019040.5:c.*3703_*3705del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Foveal hypoplasia 1
Synonyms:: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT; FOVEAL HYPOPLASIA 1 WITH ANTERIOR SEGMENT ANOMALIES
Identifiers:: MONDO: MONDO:0007628; MedGen: C3805604; Orphanet: 2253; OMIM: 136520

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000370858	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000370858

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000370858.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 16, 2025

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