NM_001287174.1(ABCC8):c.4618G>A (p.Val1540Met) AND Neonatal diabetes mellitus

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029270.1

Allele description [Variation Report for NM_001287174.1(ABCC8):c.4618G>A (p.Val1540Met)]

Gene:
ABCC8:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001287174.1(ABCC8):c.4618G>A (p.Val1540Met)
HGVS:
  • NC_000011.10:g.17393122C>T
  • NG_008867.1:g.88781G>A
  • NM_000352.4:c.4615G>A
  • NM_001287174.1:c.4618G>A
  • NP_000343.2:p.Val1539Met
  • NP_001274103.1:p.Val1540Met
  • NC_000011.9:g.17414669C>T
  • NM_000352.3:c.4615G>A
Protein change:
V1539M
Links:
dbSNP: 193922408
NCBI 1000 Genomes Browser:
rs193922408
Molecular consequence:
  • NM_001287174.1:c.4618G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Neonatal diabetes mellitus (NDM)
Synonyms:
Neonatal Diabetes Mellitus
Identifiers:
MedGen: C0158981

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000051916LabCorpclassified by single submitterlikely pathogenic
(Aug 18, 2011)
germlineliterature only, clinical testingmissense mutation

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedliterature only

Details of each submission

From LabCorp, SCV000051916.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature onlynot provided
2not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteABCC8:c.4105G>T, ABCC8:c.2820+17A>G, ABCC8:c.2117-3C>T, ABCC8:c.207T>C, ABCC8:c.579+14C>T, ABCC8:c.413-5G>A, ABCC8:c.4120-19C>T, GCK:c.1253+8C>T, INS:c.187+11T>C, KCNJ11:c.570C>T, KCNJ11:c.67A>G, KCNJ11:c.1009G>A, KCNJ11:c.1154C>G1

Last Updated: Oct 11, 2014

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