NM_000208.4(INSR):c.1650G>A (p.Ala550=) AND Insulin-resistant diabetes mellitus AND acanthosis nigricans

Clinical significance:Benign (Last evaluated: Apr 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000393623.2

Allele description [Variation Report for NM_000208.4(INSR):c.1650G>A (p.Ala550=)]

NM_000208.4(INSR):c.1650G>A (p.Ala550=)

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.1650G>A (p.Ala550=)
HGVS:
  • NC_000019.10:g.7166365C>T
  • NG_008852.2:g.132636G>A
  • NM_000208.4:c.1650G>AMANE SELECT
  • NM_001079817.3:c.1650G>A
  • NP_000199.2:p.Ala550=
  • NP_001073285.1:p.Ala550=
  • NC_000019.9:g.7166376C>T
  • NM_000208.2:c.1650G>A
  • NM_001079817.1:c.1650G>A
  • p.Ala550Ala
Links:
dbSNP: rs2059806
NCBI 1000 Genomes Browser:
rs2059806
Molecular consequence:
  • NM_000208.4:c.1650G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001079817.3:c.1650G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Synonyms:
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A; INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS; IRAN, TYPE A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012520; MedGen: C0342278; Orphanet: 2297; OMIM: 610549

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000415540Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 27, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

An insulin receptor gene polymorphism is associated with diastolic blood pressure in Chinese subjects with components of the metabolic syndrome.

Thomas GN, Tomlinson B, Chan JC, Lee ZS, Cockran CS, Critchley JA.

Am J Hypertens. 2000 Jul;13(7):745-52.

PubMed [citation]
PMID:
10933564

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000415540.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Nov 27, 2021

Support Center