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NM_000209.4(PDX1):c.681C>A (p.Cys227Ter) AND PDX1-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001825020.1

Allele description [Variation Report for NM_000209.4(PDX1):c.681C>A (p.Cys227Ter)]

NM_000209.4(PDX1):c.681C>A (p.Cys227Ter)

Gene:
PDX1:pancreatic and duodenal homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.2
Genomic location:
Preferred name:
NM_000209.4(PDX1):c.681C>A (p.Cys227Ter)
HGVS:
  • NC_000013.11:g.27924530C>A
  • NG_008183.1:g.9500C>A
  • NM_000209.4:c.681C>AMANE SELECT
  • NP_000200.1:p.Cys227Ter
  • NC_000013.10:g.28498667C>A
  • NM_000209.3:c.681C>A
Protein change:
C227*
Links:
dbSNP: rs777164146
NCBI 1000 Genomes Browser:
rs777164146
Molecular consequence:
  • NM_000209.4:c.681C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
PDX1-related disorder
Synonyms:
PDX1-related condition; PDX1-Related Disorders
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002074956GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002074956.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 09-10-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: May 19, 2024