NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln) AND Transitory neonatal diabetes mellitus

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:: RCV002253501.2

Allele description [Variation Report for NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln)]

NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln)

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.794G>A (p.Arg265Gln)

HGVS:

NC_000011.10:g.17461611C>T
NG_008867.1:g.20292G>A
NM_000352.6:c.794G>AMANE SELECT
NM_001287174.3:c.794G>A
NM_001351295.2:c.794G>A
NM_001351296.2:c.794G>A
NM_001351297.2:c.794G>A
NP_000343.2:p.Arg265Gln
NP_001274103.1:p.Arg265Gln
NP_001338224.1:p.Arg265Gln
NP_001338225.1:p.Arg265Gln
NP_001338226.1:p.Arg265Gln
LRG_790t1:c.794G>A
LRG_790t2:c.794G>A
LRG_790:g.20292G>A
LRG_790p1:p.Arg265Gln
LRG_790p2:p.Arg265Gln
NC_000011.9:g.17483158C>T
NM_000352.3:c.794G>A
NR_147094.2:n.863G>A

Protein change:

R265Q

Links:

dbSNP: rs757018137

NCBI 1000 Genomes Browser:

rs757018137

Molecular consequence:

NM_000352.6:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.794G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.863G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Transitory neonatal diabetes mellitus
Synonyms:: Transient neonatal diabetes mellitus
Identifiers:: MONDO: MONDO:0020525; MedGen: C0342273; Human Phenotype Ontology: HP:0008255

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002522639	Clinical 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 significance	unknown	research	PubMed (8) [See all records that cite these PMIDs] 16885549, 21989597, 27538677, 18981553, 32027066, 16613899, 18025408, 32792356 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002522639

Clinical 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 significance

unknown

research

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

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, SCV002522639.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	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 ( rs757018137) in neonatal diabetes yet.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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