NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) AND Hyperinsulinemic hypoglycemia, familial, 1

Clinical significance:Pathogenic (Last evaluated: Nov 25, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000499389.3

Allele description [Variation Report for NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)]

NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)

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.2992C>T (p.Arg998Ter)
HGVS:
  • NC_000011.10:g.17407058G>A
  • NG_008867.1:g.74845C>T
  • NM_000352.6:c.2992C>TMANE SELECT
  • NM_001287174.3:c.2995C>T
  • NM_001351295.2:c.3058C>T
  • NM_001351296.2:c.2992C>T
  • NM_001351297.2:c.2989C>T
  • NP_000343.2:p.Arg998Ter
  • NP_001274103.1:p.Arg999Ter
  • NP_001338224.1:p.Arg1020Ter
  • NP_001338225.1:p.Arg998Ter
  • NP_001338226.1:p.Arg997Ter
  • LRG_790t1:c.2992C>T
  • LRG_790t2:c.2995C>T
  • LRG_790:g.74845C>T
  • LRG_790p1:p.Arg998Ter
  • LRG_790p2:p.Arg999Ter
  • NC_000011.9:g.17428605G>A
  • NM_000352.3:c.2992C>T
  • NM_000352.4:c.2992C>T
  • NM_000352.5:c.2992C>T
  • NR_147094.2:n.3141C>T
  • p.ARG998*
Protein change:
R1020*
Links:
dbSNP: rs769518471
NCBI 1000 Genomes Browser:
rs769518471
Molecular consequence:
  • NR_147094.2:n.3141C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000352.6:c.2992C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001287174.3:c.2995C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351295.2:c.3058C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351296.2:c.2992C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001351297.2:c.2989C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)
Synonyms:
HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS; HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY; NESIDIOBLASTOSIS OF PANCREAS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009734; MedGen: C2931832; Orphanet: 276575; Orphanet: 276598; OMIM: 256450

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000592991Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Pathogenic
(Nov 25, 2015)
germlineclinical testing

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

SCV001132112Counsylno assertion criteria providedPathogenic
(Dec 21, 2018)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528
See all PubMed Citations (4)

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000592991.1

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

From Counsyl, SCV001132112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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