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NM_000209.4(PDX1):c.124C>T (p.Pro42Ser) AND Pancreatic hypoplasia

Germline classification:
Uncertain risk allele (1 submission)
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:
RCV002464048.1

Allele description [Variation Report for NM_000209.4(PDX1):c.124C>T (p.Pro42Ser)]

NM_000209.4(PDX1):c.124C>T (p.Pro42Ser)

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.124C>T (p.Pro42Ser)
HGVS:
  • NC_000013.11:g.27920262C>T
  • NG_008183.1:g.5232C>T
  • NM_000209.4:c.124C>TMANE SELECT
  • NP_000200.1:p.Pro42Ser
  • NC_000013.10:g.28494399C>T
Protein change:
P42S
Links:
dbSNP: rs1188694060
NCBI 1000 Genomes Browser:
rs1188694060
Molecular consequence:
  • NM_000209.4:c.124C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pancreatic hypoplasia
Identifiers:
MedGen: C0266267; Human Phenotype Ontology: HP:0002594

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002605234Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)		Uncertain risk alleleunknownresearch

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report.

Sahebi L, Niknafs N, Dalili H, Amini E, Esmaeilnia T, Amoli M, Farrokhzad N.

J Med Case Rep. 2019 Aug 1;13(1):258. doi: 10.1186/s13256-019-2149-x.

PubMed [citation]
PMID:
31366392
PMCID:
PMC6670147

Pdx1 (MODY4) regulates pancreatic beta cell susceptibility to ER stress.

Sachdeva MM, Claiborn KC, Khoo C, Yang J, Groff DN, Mirmira RG, Stoffers DA.

Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19090-5. doi: 10.1073/pnas.0904849106. Epub 2009 Oct 23.

PubMed [citation]
PMID:
19855005
PMCID:
PMC2776433
See all PubMed Citations (6)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605234.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (6)

Description

Potent homozygous mutations in the PDX1 gene can lead to pancreatic agenesis/pancreatic hypoplasia and neonatal diabetes mellitus. However no sufficient evidence is found to ascertain the role of this particular variant rs1188694060, yet.

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

Last Updated: Dec 17, 2022