NM_000325.6(PITX2):c.343_364del (p.Arg115fs) AND Axenfeld-Rieger syndrome type 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 12, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000416516.1

Allele description

NM_000325.6(PITX2):c.343_364del (p.Arg115fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_000325.6(PITX2):c.343_364del (p.Arg115fs)

HGVS:

NC_000004.12:g.110621213_110621234del
NG_007120.1:g.21121_21142del
NM_000325.6:c.343_364delMANE SELECT
NM_001204397.2:c.322_343del
NM_001204398.1:c.322_343del
NM_001204399.1:c.184_205del
NM_153426.3:c.322_343del
NM_153427.3:c.184_205del
NP_000316.2:p.Arg115fs
NP_001191326.1:p.Arg108fs
NP_001191327.1:p.Arg108fs
NP_001191328.1:p.Arg62fs
NP_700475.1:p.Arg108fs
NP_700476.1:p.Arg62fs
NM_153427.2:c.184_205del22

Protein change:

R108fs

Links:

dbSNP: rs1057519483

NCBI 1000 Genomes Browser:

rs1057519483

Molecular consequence:

NM_000325.6:c.343_364del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001204397.2:c.322_343del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001204398.1:c.322_343del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001204399.1:c.184_205del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153426.3:c.322_343del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_153427.3:c.184_205del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Axenfeld-Rieger syndrome type 1 (RIEG1)
Synonyms:: Rieger syndrome type 1
Identifiers:: MONDO: MONDO:0008386; MedGen: C3714873; Orphanet: 782; OMIM: 180500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494268	Molecular Pathology, SA Pathology	no assertion criteria provided	Pathogenic (Oct 12, 2015)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494268

Molecular Pathology, SA Pathology

no assertion criteria provided

Pathogenic
(Oct 12, 2015)

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	maternal	yes	2	1	not provided	not provided	yes	clinical testing

Details of each submission

From Molecular Pathology, SA Pathology, SCV000494268.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	2	not provided	yes	clinical testing	not provided

Description

Frame-shift introducing premature terminating codon (PTC) effecting functional haploinufficiency; clinical significance consistent with PITX2 PTC variants found upstream and down stream of this position - each regarded as pathogenic in published literature.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: May 21, 2022

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