NM_000207.3(INS):c.*9C>T AND Transient Neonatal Diabetes, Dominant/Recessive

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000289877.2

Allele description [Variation Report for NM_000207.3(INS):c.*9C>T]

NM_000207.3(INS):c.*9C>T

Genes:
TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
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.*9C>T
HGVS:
  • NC_000011.10:g.2159843G>A
  • NG_007114.1:g.6352C>T
  • NG_050578.1:g.6367C>T
  • NM_000207.3:c.*9C>TMANE SELECT
  • NM_001042376.3:c.187+942C>T
  • NM_001185097.2:c.*9C>T
  • NM_001185098.2:c.*9C>T
  • NM_001291897.2:c.*9C>T
  • NC_000011.9:g.2181073G>A
  • NM_000207.2:c.*9C>T
Links:
dbSNP: rs3842752
NCBI 1000 Genomes Browser:
rs3842752
Molecular consequence:
  • NM_000207.3:c.*9C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001185097.2:c.*9C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001185098.2:c.*9C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001291897.2:c.*9C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001042376.3:c.187+942C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Transient Neonatal Diabetes, Dominant/Recessive
Identifiers:
MedGen: CN239353

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000369875Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Polymorphism of the insulin gene is associated with increased prostate cancer risk.

Ho GY, Melman A, Liu SM, Li M, Yu H, Negassa A, Burk RD, Hsing AW, Ghavamian R, Chua SC Jr.

Br J Cancer. 2003 Jan 27;88(2):263-9.

PubMed [citation]
PMID:
12610512
PMCID:
PMC2377060

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000369875.2

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

Last Updated: Nov 20, 2021

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