NM_000207.3(INS):c.308A>G (p.Tyr103Cys) AND Permanent neonatal diabetes mellitus

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 28, 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:: RCV000059614.6

Allele description [Variation Report for NM_000207.3(INS):c.308A>G (p.Tyr103Cys)]

NM_000207.3(INS):c.308A>G (p.Tyr103Cys)

Genes:

INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
INS:insulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000207.3(INS):c.308A>G (p.Tyr103Cys)

HGVS:

NC_000011.10:g.2159877T>C
NG_007114.1:g.6318A>G
NG_050578.1:g.6333A>G
NM_000207.3:c.308A>GMANE SELECT
NM_001042376.3:c.187+908A>G
NM_001185097.2:c.308A>G
NM_001185098.2:c.308A>G
NM_001291897.2:c.308A>G
NP_000198.1:p.Tyr103Cys
NP_001172026.1:p.Tyr103Cys
NP_001172027.1:p.Tyr103Cys
NP_001278826.1:p.Tyr103Cys
NC_000011.9:g.2181107T>C
NM_000207.2:c.308A>G
P01308:p.Tyr103Cys

Protein change:

Y103C

Links:

UniProtKB: P01308#VAR_063740; UniProtKB/Swiss-Prot: VAR_063740; dbSNP: rs121908277

NCBI 1000 Genomes Browser:

rs121908277

Molecular consequence:

NM_001042376.3:c.187+908A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000207.3:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001185097.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001185098.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001291897.2:c.308A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Permanent neonatal diabetes mellitus (PNDM)
Synonyms:: Permanent diabetes mellitus of infancy
Identifiers:: MONDO: MONDO:0100164; MedGen: C1833104; OMIM: PS606176

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000091163	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]
SCV000595240	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 28, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000091163

UniProtKB/Swiss-Prot

no classification provided

not provided

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

SCV000595240

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 28, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group., Hattersley AT, Ellard S.

Diabetes. 2008 Apr;57(4):1034-42. Epub 2007 Dec 27.

PubMed [citation]

PMID:: 18162506
PMCID:: PMC7611804

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

Details of each submission

From UniProtKB/Swiss-Prot, SCV000091163.1

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

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

From Genetic Services Laboratory, University of Chicago, SCV000595240.1

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

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

Last Updated: Sep 29, 2024

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