NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Sep 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)]

NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)

ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
  • NC_000011.10:g.17395914C>T
  • NG_008867.1:g.85989G>A
  • NM_000352.6:c.4136G>AMANE SELECT
  • NM_001287174.3:c.4139G>A
  • NM_001351295.2:c.4202G>A
  • NM_001351296.2:c.4136G>A
  • NM_001351297.2:c.4133G>A
  • NP_000343.2:p.Arg1379His
  • NP_001274103.1:p.Arg1380His
  • NP_001338224.1:p.Arg1401His
  • NP_001338225.1:p.Arg1379His
  • NP_001338226.1:p.Arg1378His
  • LRG_790t1:c.4136G>A
  • LRG_790t2:c.4139G>A
  • LRG_790:g.85989G>A
  • LRG_790p1:p.Arg1379His
  • LRG_790p2:p.Arg1380His
  • NC_000011.9:g.17417461C>T
  • NM_000352.3:c.4136G>A
  • NM_000352.4(ABCC8):c.4136G>A
  • NR_147094.2:n.4431G>A
  • p.Arg1379His
Protein change:
dbSNP: rs193922401
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000352.6:c.4136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287174.3:c.4139G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351295.2:c.4202G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351296.2:c.4136G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351297.2:c.4133G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147094.2:n.4431G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000840596Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Sep 28, 2017)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Summary from all submissions

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



Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.

Shepherd M, Shields B, Hammersley S, Hudson M, McDonald TJ, Colclough K, Oram RA, Knight B, Hyde C, Cox J, Mallam K, Moudiotis C, Smith R, Fraser B, Robertson S, Greene S, Ellard S, Pearson ER, Hattersley AT; UNITED Team..

Diabetes Care. 2016 Nov;39(11):1879-1888. Epub 2016 Jun 6.

PubMed [citation]

Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].

Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, et al.

Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6. Erratum in: Lancet Diabetes Endocrinol. 2013 Nov;1(3):e14.

PubMed [citation]
See all PubMed Citations (9)

Details of each submission

From Athena Diagnostics Inc, SCV000840596.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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