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NM_153427.2(PITX2):c.*572T>C

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
7 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000347289.1
Variation ID:
347289
Description:
single nucleotide variant
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NM_153427.2(PITX2):c.*572T>C

Allele ID
292026
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q25
Genomic location
4: 110617553 (GRCh38) GRCh38 UCSC
4: 111538709 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.12:g.110617553A>G
NC_000004.11:g.111538709A>G
NM_153427.2:c.*572T>C 3 prime UTR
NG_007120.1:g.24800T>C
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs886059003
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000283957.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000289737.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000318951.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000341246.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000346917.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000378285.1
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000408223.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PITX2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
65 76

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Ring Dermoid of Cornea
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447021.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
PITX2-Related Eye Abnormalities
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447024.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Anterior Segment Mesenchymal Dysgenesis
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447026.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cataracts
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447023.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Axenfeld-Rieger Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447020.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Iris Hypoplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447025.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Peters Anomaly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000447022.2
Submitted: (Oct 18, 2016)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 13, 2019