NM_000208.4(INSR):c.2829C>T (p.Tyr943=) AND Hyperinsulinism due to INSR deficiency

Germline classification:: Likely benign (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:: RCV003883558.1

Allele description [Variation Report for NM_000208.4(INSR):c.2829C>T (p.Tyr943=)]

NM_000208.4(INSR):c.2829C>T (p.Tyr943=)

Gene:

INSR:insulin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000208.4(INSR):c.2829C>T (p.Tyr943=)

HGVS:

NC_000019.10:g.7132171G>A
NG_008852.2:g.166830C>T
NM_000208.4:c.2829C>TMANE SELECT
NM_001079817.3:c.2793C>T
NP_000199.2:p.Tyr943=
NP_001073285.1:p.Tyr931=
NC_000019.9:g.7132182G>A
NC_000019.9:g.7132182G>A
NM_000208.2:c.2829C>T

Links:

dbSNP: rs376766937

NCBI 1000 Genomes Browser:

rs376766937

Molecular consequence:

NM_000208.4:c.2829C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001079817.3:c.2793C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Hyperinsulinism due to INSR deficiency
Synonyms:: Hyperinsulinism due to glutamodehydrogenase deficiency; Hyperinsulinemic hypoglycemia familial 5
Identifiers:: MONDO: MONDO:0012381; MedGen: C1864952; Orphanet: 263458; OMIM: 609968

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004698167	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K And H Uppaluri Personalized Medicine Clinic Variant Classification And Assertion Criteria Updated V 2)	Likely benign	unknown	research	PubMed (3) [See all records that cite these PMIDs] 35000900, 31989990, 23705494 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004698167

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K And H Uppaluri Personalized Medicine Clinic Variant Classification And Assertion Criteria Updated V 2)

Likely benign

unknown

research

PubMed (3)
[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

Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance.

Sanderson EE, Shah M, Hooper AJ, Bell DA, Choong CS.

Endocrinol Diabetes Metab Case Rep. 2022 Jan 1;2022. doi:pii: EDM210114. 10.1530/EDM-21-0114. [Epub ahead of print]

PubMed [citation]

PMID:: 35000900
PMCID:: PMC8789010

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

Sethi A, Foulds N, Ehtisham S, Ahmed SH, Houghton J, Colclough K, Didi M, Flanagan SE, Senniappan S.

J Clin Res Pediatr Endocrinol. 2020 Nov 25;12(4):420-426. doi: 10.4274/jcrpe.galenos.2019.2019.0106. Epub 2020 Jan 28. Erratum in: J Clin Res Pediatr Endocrinol. 2021 Jun 2;13(2):249. doi: 10.4274/jcrpe.galenos.2021.e002.

PubMed [citation]

PMID:: 31989990
PMCID:: PMC7711633

See all PubMed Citations (3)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV004698167.1

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

Description

Potent mutations in INSR gene can lead to insulin resistance, which presents as impaired glucose tolerance, early onset type 2 diabetes, post prandial hyperglycemia and increased insulin requirement in type 1 diabetes. These mutations in INSR gene can also predispose to coronary artery disease, metabolic syndrome, polycystic ovarian disease and non alcoholic fatty liver disease.However, the role of this particular variant rs376766937 with early onset diabetes mellitus is yet to be ascertained.

#	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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