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NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) AND Hereditary hyperinsulinism

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 7, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001279202.4

Allele description [Variation Report for NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)]

NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)

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.824G>A (p.Arg275Gln)
HGVS:
  • NC_000011.10:g.17460675C>T
  • NG_008867.1:g.21228G>A
  • NM_000352.6:c.824G>AMANE SELECT
  • NM_001287174.3:c.824G>A
  • NM_001351295.2:c.824G>A
  • NM_001351296.2:c.821G>A
  • NM_001351297.2:c.821G>A
  • NP_000343.2:p.Arg275Gln
  • NP_001274103.1:p.Arg275Gln
  • NP_001338224.1:p.Arg275Gln
  • NP_001338225.1:p.Arg274Gln
  • NP_001338226.1:p.Arg274Gln
  • LRG_790t1:c.824G>A
  • LRG_790t2:c.824G>A
  • LRG_790:g.21228G>A
  • LRG_790p1:p.Arg275Gln
  • LRG_790p2:p.Arg275Gln
  • NC_000011.9:g.17482222C>T
  • NM_000352.3:c.824G>A
  • NM_000352.4:c.824G>A
  • NM_000352.5:c.824G>A
  • NR_147094.2:n.890G>A
  • Q09428:p.Arg275Gln
Protein change:
R274Q
Links:
UniProtKB: Q09428#VAR_008643; dbSNP: rs185040406
NCBI 1000 Genomes Browser:
rs185040406
Molecular consequence:
  • NM_000352.6:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287174.3:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351295.2:c.824G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351296.2:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351297.2:c.821G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147094.2:n.890G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary hyperinsulinism
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001466285Natera, Inc.
no assertion criteria provided
Likely benign
(Oct 7, 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., SCV001466285.1

#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: Sep 29, 2024