NM_000325.6(PITX2):c.412-11del AND Anterior segment dysgenesis 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:: RCV000387455.6

Allele description [Variation Report for NM_000325.6(PITX2):c.412-11del]

NM_000325.6(PITX2):c.412-11del

Gene:

PITX2:paired like homeodomain 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_000325.6(PITX2):c.412-11del

HGVS:

NC_000004.12:g.110618700del
NG_007120.1:g.23654del
NM_000325.6:c.412-11delMANE SELECT
NM_001204397.2:c.391-11del
NM_001204398.1:c.391-11del
NM_001204399.1:c.253-11del
NM_153426.3:c.391-11del
NM_153427.3:c.253-11del
NC_000004.11:g.111539856del
NM_153427.2:c.253-11delA

Links:

dbSNP: rs886059007

NCBI 1000 Genomes Browser:

rs886059007

Molecular consequence:

NM_000325.6:c.412-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001204397.2:c.391-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001204398.1:c.391-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_001204399.1:c.253-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_153426.3:c.391-11del - intron variant - [Sequence Ontology: SO:0001627]
NM_153427.3:c.253-11del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Anterior segment dysgenesis 1 (ASGD1)
Identifiers:: MONDO: MONDO:0007138; MedGen: C4551992; OMIM: 107250

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000447127	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

SCV000447127

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, SCV000447127.2

#	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: Apr 9, 2023

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