NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) AND Monogenic diabetes

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 19, 2016
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:: RCV000445478.4

Allele description [Variation Report for NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)]

NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)

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.670G>A (p.Glu224Lys)

HGVS:

NC_000013.11:g.27924519G>A
NG_008183.1:g.9489G>A
NM_000209.4:c.670G>AMANE SELECT
NP_000200.1:p.Glu224Lys
NC_000013.10:g.28498656G>A
NM_000209.3:c.670G>A

Protein change:

E224K; GLU224LYS

Links:

OMIM: 600733.0007; dbSNP: rs137852787

NCBI 1000 Genomes Browser:

rs137852787

Molecular consequence:

NM_000209.4:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Monogenic diabetes
Identifiers:: MONDO: MONDO:0015967; MedGen: C3888631

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537092	Personalized Diabetes Medicine Program, University of Maryland School of Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 19, 2016)	unknown	research	PubMed (3) [See all records that cite these PMIDs] 17126328, 14764823, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537092

Personalized Diabetes Medicine Program, University of Maryland School of Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 19, 2016)

unknown

research

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Two conserved domains in PCIF1 mediate interaction with pancreatic transcription factor PDX-1.

Liu A, Oliver-Krasinski J, Stoffers DA.

FEBS Lett. 2006 Dec 11;580(28-29):6701-6. Epub 2006 Nov 17.

PubMed [citation]

PMID:: 17126328

Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family.

Cockburn BN, Bermano G, Boodram LL, Teelucksingh S, Tsuchiya T, Mahabir D, Allan AB, Stein R, Docherty K, Bell GI.

J Clin Endocrinol Metab. 2004 Feb;89(2):971-8.

PubMed [citation]

PMID:: 14764823

See all PubMed Citations (3)

Details of each submission

From Personalized Diabetes Medicine Program, University of Maryland School of Medicine, SCV000537092.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (3)

Description

ACMG Criteria: PS3 (PMID:17126328,14764823), PP3, BS1 (1000G SAS), BS2 (type2diabetesgenetics.org), BP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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