NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) AND Maturity onset diabetes mellitus in young

Germline classification:: Benign (1 submission)
Last evaluated:: Sep 18, 2017
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:: RCV002381270.9

Allele description [Variation Report for NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)]

NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)

Gene:

PDX1:pancreatic and duodenal homeobox 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

13q12.2

Genomic location:

Preferred name:

NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)

HGVS:

NC_000013.10:g.28498712_28498714dup
NC_000013.11:g.27924563GCC[6]
NG_008183.1:g.9533GCC[6]
NM_000209.4:c.714GCC[6]MANE SELECT
NP_000200.1:p.Pro244_Gly245insPro
NC_000013.10:g.28498699_28498700insGCC
NC_000013.10:g.28498700GCC[6]
NC_000013.10:g.28498712_28498714dup
NM_000209.3:c.726_728dup
NM_000209.3:c.726_728dupGCC
NM_000209.4:c.726_728dupMANE SELECT
NM_000209.4:c.726_728dupGCCMANE SELECT
p.Pro243dup

Links:

OMIM: 600733.0004; dbSNP: rs193922357

NCBI 1000 Genomes Browser:

rs193922357

Molecular consequence:

NM_000209.4:c.714GCC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Maturity onset diabetes mellitus in young (MODY)
Synonyms:: Mason type diabetes
Identifiers:: MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002672498	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Sep 18, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 10545531, 14764823, 16229747, 17003361 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002672498

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Sep 18, 2017)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus.

Hani EH, Stoffers DA, Chèvre JC, Durand E, Stanojevic V, Dina C, Habener JF, Froguel P.

J Clin Invest. 1999 Nov;104(9):R41-8.

PubMed [citation]

PMID:: 10545531
PMCID:: PMC409821

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 (4)

Details of each submission

From Ambry Genetics, SCV002672498.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Aug 18, 2024

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