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NM_005456.4(MAPK8IP1):c.1666+5T>C AND Type 2 diabetes mellitus

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2023
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:
RCV003448633.1

Allele description [Variation Report for NM_005456.4(MAPK8IP1):c.1666+5T>C]

NM_005456.4(MAPK8IP1):c.1666+5T>C

Gene:
MAPK8IP1:mitogen-activated protein kinase 8 interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_005456.4(MAPK8IP1):c.1666+5T>C
HGVS:
  • NC_000011.10:g.45904166T>C
  • NG_012153.1:g.23516T>C
  • NM_005456.4:c.1666+5T>CMANE SELECT
  • NC_000011.9:g.45925717T>C
Molecular consequence:
  • NM_005456.4:c.1666+5T>C - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Type 2 diabetes mellitus
Synonyms:
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:
MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004176203New York Genome Center
criteria provided, single submitter

(NYGC Assertion Criteria 2020)
Uncertain significance
(May 3, 2023)
inheritedclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center, SCV004176203.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024