NM_000352.6(ABCC8):c.375C>G (p.His125Gln) AND Monogenic diabetes

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 23, 2016
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:: RCV000445428.4

Allele description [Variation Report for NM_000352.6(ABCC8):c.375C>G (p.His125Gln)]

NM_000352.6(ABCC8):c.375C>G (p.His125Gln)

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.375C>G (p.His125Gln)

HGVS:

NC_000011.10:g.17470138G>C
NG_008867.1:g.11765C>G
NM_000352.6:c.375C>GMANE SELECT
NM_001287174.3:c.375C>G
NM_001351295.2:c.375C>G
NM_001351296.2:c.375C>G
NM_001351297.2:c.375C>G
NP_000343.2:p.His125Gln
NP_001274103.1:p.His125Gln
NP_001338224.1:p.His125Gln
NP_001338225.1:p.His125Gln
NP_001338226.1:p.His125Gln
LRG_790t1:c.375C>G
LRG_790t2:c.375C>G
LRG_790:g.11765C>G
LRG_790p1:p.His125Gln
LRG_790p2:p.His125Gln
NC_000011.9:g.17491685G>C
NM_000352.3:c.375C>G
NM_000352.4:c.375C>G
NR_147094.2:n.444C>G

Protein change:

H125Q

Links:

dbSNP: rs60637558

NCBI 1000 Genomes Browser:

rs60637558

Molecular consequence:

NM_000352.6:c.375C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001287174.3:c.375C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351295.2:c.375C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351296.2:c.375C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351297.2:c.375C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_147094.2:n.444C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Monogenic diabetes
Identifiers:: MONDO: MONDO:0015967; MedGen: C3888631

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000537080	Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 23, 2016)	unknown	research	PubMed (3) [See all records that cite these PMIDs] 9648840, 9618169, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000537080

Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 23, 2016)

unknown

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG.

Diabetes. 1998 Jul;47(7):1145-51.

PubMed [citation]

PMID:: 9648840

Genetic heterogeneity in familial hyperinsulinism.

Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton PS, Permutt MA.

Hum Mol Genet. 1998 Jul;7(7):1119-28. Erratum in: Hum Mol Genet 1998 Sep;7(9):1527.

PubMed [citation]

PMID:: 9618169

See all PubMed Citations (3)

Details of each submission

From Personalized Diabetes Medicine Program, University of Maryland School of Medicine - Personalized Diabetes Medicine Program, SCV000537080.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (3)

Description

ACMG Criteria:PP3, PS3 (Shyng et al performed functional analysis in PMID 9648840), Nestorowicz et al describes in single hyperinsulinemic patient PMID 9618169

#	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		1	not provided	not provided	not provided

Last Updated: Mar 16, 2025

ClinVar

Relating variation to medicine