U.S. flag

An official website of the United States government

NM_000325.6(PITX2):c.697A>G (p.Met233Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 8, 2023
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:
RCV002923442.2

Allele description

NM_000325.6(PITX2):c.697A>G (p.Met233Val)

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.697A>G (p.Met233Val)
HGVS:
  • NC_000004.12:g.110618403T>C
  • NG_007120.1:g.23950A>G
  • NM_000325.6:c.697A>GMANE SELECT
  • NM_001204397.2:c.676A>G
  • NM_001204398.1:c.676A>G
  • NM_001204399.1:c.538A>G
  • NM_153426.3:c.676A>G
  • NM_153427.3:c.538A>G
  • NP_000316.2:p.Met233Val
  • NP_001191326.1:p.Met226Val
  • NP_001191327.1:p.Met226Val
  • NP_001191328.1:p.Met180Val
  • NP_700475.1:p.Met226Val
  • NP_700476.1:p.Met180Val
  • NC_000004.11:g.111539559T>C
Protein change:
M180V
Molecular consequence:
  • NM_000325.6:c.697A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204397.2:c.676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204398.1:c.676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204399.1:c.538A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153426.3:c.676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153427.3:c.538A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Axenfeld-Rieger syndrome type 1 (RIEG1)
Synonyms:
Rieger syndrome type 1
Identifiers:
MONDO: MONDO:0008386; MedGen: C3714873; Orphanet: 782; OMIM: 180500
Name:
Anterior segment dysgenesis 4 (ASGD4)
Synonyms:
Iridogoniodysgenesis, dominant type; Iridogoniodysgenesis type 2; Iridogoniodysgenesis syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007662; MedGen: C1842031; Orphanet: 91483; OMIM: 137600

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003268867Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 8, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003268867.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 180 of the PITX2 protein (p.Met180Val). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PITX2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024