NM_000325.6(PITX2):c.412-2A>G AND Axenfeld-Rieger syndrome type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 2022
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:: RCV002293457.1

Allele description [Variation Report for NM_000325.6(PITX2):c.412-2A>G]

NM_000325.6(PITX2):c.412-2A>G

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_000325.6(PITX2):c.412-2A>G

HGVS:

NC_000004.12:g.110618690T>C
NG_007120.1:g.23663A>G
NM_000325.6:c.412-2A>GMANE SELECT
NM_001204397.2:c.391-2A>G
NM_001204398.1:c.391-2A>G
NM_001204399.1:c.253-2A>G
NM_153426.3:c.391-2A>G
NM_153427.3:c.253-2A>G
NC_000004.11:g.111539846T>C
NM_153427.2:c.253-2A>G

Links:

dbSNP: rs1553922583

NCBI 1000 Genomes Browser:

rs1553922583

Molecular consequence:

NM_000325.6:c.412-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001204397.2:c.391-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001204398.1:c.391-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001204399.1:c.253-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_153426.3:c.391-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_153427.3:c.253-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

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

Recent activity

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GPC2 [Molossus molossus]
GPC2 [Molossus molossus]
Gene ID:118642499

Gene
LOC114369417 [Glycine soja]
LOC114369417 [Glycine soja]
Gene ID:114369417

Gene
Chain Q, PHE-ILE-LYS-ARG-ASP-ARG-MET-ARG-ARG-ASN-PHE-LEU-ARG-MET-ARG
Chain Q, PHE-ILE-LYS-ARG-ASP-ARG-MET-ARG-ARG-ASN-PHE-LEU-ARG-MET-ARG
gi|1026943833|pdb|5IP9|Q

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002538930	Human Developmental Genetics Laboratory, Medical College of Wisconsin	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 23, 2022)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 35882526

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002538930

Human Developmental Genetics Laboratory, Medical College of Wisconsin

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 23, 2022)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, et al.

J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26.

PubMed [citation]

PMID:: 35882526
PMCID:: PMC9912354

Details of each submission

From Human Developmental Genetics Laboratory, Medical College of Wisconsin, SCV002538930.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (2)

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

Last Updated: Sep 29, 2024

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