NM_000207.3(INS):c.*9C>T AND Maturity-onset diabetes of the young, type 10

Clinical significance:Likely benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001103214.1

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:
Maturity-onset diabetes of the young, type 10 (MODY10)
Identifiers:
MONDO: MONDO:0013240; MedGen: C3150617; Orphanet: 552; OMIM: 613370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001259940Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 27, 2017)
germlineclinical testing

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

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, SCV001259940.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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