NM_000352.6(ABCC8):c.279C>A (p.Ile93=) AND Hereditary hyperinsulinism

Clinical significance:Uncertain significance (Last evaluated: Apr 10, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001276288.1

Allele description [Variation Report for NM_000352.6(ABCC8):c.279C>A (p.Ile93=)]

NM_000352.6(ABCC8):c.279C>A (p.Ile93=)

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.279C>A (p.Ile93=)
HGVS:
  • NC_000011.10:g.17474897G>T
  • NG_008867.1:g.7006C>A
  • NM_000352.6:c.279C>AMANE SELECT
  • NM_001287174.2:c.279C>A
  • NM_001351295.2:c.279C>A
  • NM_001351296.2:c.279C>A
  • NM_001351297.2:c.279C>A
  • NP_000343.2:p.Ile93=
  • NP_001274103.1:p.Ile93=
  • NP_001338224.1:p.Ile93=
  • NP_001338225.1:p.Ile93=
  • NP_001338226.1:p.Ile93=
  • LRG_790t1:c.279C>A
  • LRG_790:g.7006C>A
  • LRG_790p1:p.Ile93=
  • NC_000011.9:g.17496444G>T
  • NM_000352.4:c.279C>A
  • NM_000352.5:c.279C>A
  • NR_147094.2:n.348C>A
Links:
dbSNP: rs550990673
NCBI 1000 Genomes Browser:
rs550990673
Molecular consequence:
  • NR_147094.2:n.348C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000352.6:c.279C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001287174.2:c.279C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351295.2:c.279C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351296.2:c.279C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351297.2:c.279C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary hyperinsulinism
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001462397Natera, Inc.no assertion criteria providedUncertain significance
(Apr 10, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001462397.1

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

Last Updated: Jun 14, 2021

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