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NM_000352.6(ABCC8):c.813C>T (p.Asp271=) AND Maturity onset diabetes mellitus in young

Germline classification:
Uncertain significance (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002253701.1

Allele description

NM_000352.6(ABCC8):c.813C>T (p.Asp271=)

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.813C>T (p.Asp271=)
HGVS:
  • NC_000011.10:g.17461592G>A
  • NG_008867.1:g.20311C>T
  • NM_000352.6:c.813C>TMANE SELECT
  • NM_001287174.3:c.813C>T
  • NM_001351295.2:c.813C>T
  • NM_001351296.2:c.813C>T
  • NM_001351297.2:c.813C>T
  • NP_000343.2:p.Asp271=
  • NP_001274103.1:p.Asp271=
  • NP_001338224.1:p.Asp271=
  • NP_001338225.1:p.Asp271=
  • NP_001338226.1:p.Asp271=
  • LRG_790t1:c.813C>T
  • LRG_790t2:c.813C>T
  • LRG_790:g.20311C>T
  • LRG_790p1:p.Asp271=
  • LRG_790p2:p.Asp271=
  • NC_000011.9:g.17483139G>A
  • NM_000352.4:c.813C>T
  • NR_147094.2:n.882C>T
Links:
dbSNP: rs569222899
NCBI 1000 Genomes Browser:
rs569222899
Molecular consequence:
  • NR_147094.2:n.882C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000352.6:c.813C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001287174.3:c.813C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351295.2:c.813C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351296.2:c.813C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001351297.2:c.813C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Maturity onset diabetes mellitus in young (MODY)
Synonyms:
Mason type diabetes
Identifiers:
MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002522633Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)		Uncertain significanceunknownresearch

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

Babenko AP, Polak M, Cavé H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P.

N Engl J Med. 2006 Aug 3;355(5):456-66.

PubMed [citation]
PMID:
16885549

Heterozygous ABCC8 mutations are a cause of MODY.

Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S.

Diabetologia. 2012 Jan;55(1):123-7. doi: 10.1007/s00125-011-2319-x. Epub 2011 Oct 12.

PubMed [citation]
PMID:
21989597
See all PubMed Citations (8)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002522633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (8)

Description

Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs569222899) in MODY yet.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024