NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Oct 1, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000515153.3

Allele description [Variation Report for NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)]

NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)

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.716C>A (p.Pro239Gln)
HGVS:
  • NC_000013.11:g.27924565C>A
  • NG_008183.1:g.9535C>A
  • NM_000209.4:c.716C>AMANE SELECT
  • NP_000200.1:p.Pro239Gln
  • NC_000013.10:g.28498702C>A
  • NM_000209.3:c.716C>A
Protein change:
P239Q
Links:
dbSNP: rs199644078
NCBI 1000 Genomes Browser:
rs199644078
Molecular consequence:
  • NM_000209.4:c.716C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000152173Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Likely benign
(Mar 29, 2016)
germlineclinical testing

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

SCV001476619Athena Diagnostics Inccriteria provided, single submitter
Benign
(Oct 1, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

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

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, et al.

Nat Genet. 2013 Nov;45(11):1380-5. doi: 10.1038/ng.2794. Epub 2013 Oct 6.

PubMed [citation]
PMID:
24097065
PMCID:
PMC4051627
See all PubMed Citations (7)

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000152173.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001476619.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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