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:
current
Accession:
RCV000710386.1

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

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

Gene:
ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
HGVS:
  • 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:
R1378H
Links:
dbSNP: rs193922401
NCBI 1000 Genomes Browser:
rs193922401
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]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
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

Citations

PubMed

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]
PMID:
27271189
PMCID:
PMC5018394

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]
PMID:
24622368
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)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

Support Center