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NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter) AND Rabson-Mendenhall syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 15, 1991
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000015807.25

Allele description [Variation Report for NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter)]

NM_000208.4(INSR):c.3079C>T (p.Arg1027Ter)

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.3079C>T (p.Arg1027Ter)
Other names:
R988*
HGVS:
  • NC_000019.10:g.7125462G>A
  • NG_008852.2:g.173539C>T
  • NM_000208.4:c.3079C>TMANE SELECT
  • NM_001079817.3:c.3043C>T
  • NP_000199.2:p.Arg1027Ter
  • NP_001073285.1:p.Arg1015Ter
  • NC_000019.9:g.7125473G>A
  • NG_008852.1:g.173539C>T
Protein change:
R1015*; ARG1027TER
Links:
OMIM: 147670.0013; OMIM: 147670.0019; dbSNP: rs121913144
NCBI 1000 Genomes Browser:
rs121913144
Molecular consequence:
  • NM_000208.4:c.3079C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001079817.3:c.3043C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Rabson-Mendenhall syndrome
Synonyms:
Mendenhall Syndrome; Pineal hyperplasia AND diabetes mellitus syndrome; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities
Identifiers:
MONDO: MONDO:0009874; MedGen: C0271695; Orphanet: 769; OMIM: 262190

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036074OMIM
no assertion criteria provided
Pathogenic
(Mar 15, 1991) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene.

Ardon O, Procter M, Tvrdik T, Longo N, Mao R.

Mol Genet Metab Rep. 2014;1:71-84.

PubMed [citation]
PMID:
27896077
PMCID:
PMC5121292

Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.

Kadowaki T, Kadowaki H, Accili D, Taylor SI.

J Biol Chem. 1990 Nov 5;265(31):19143-50.

PubMed [citation]
PMID:
2121734
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036074.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Ardon et al. (2014) stated that this mutation is c.3079C-T in exon 17 and results in an amino acid change arg1027 to ter (R1027X), according to a revised INSR sequence (GenBank NC_000019).

See 147670.0012 and Kadowaki et al. (1990). See 147670.0018 and Kusari et al. (1991).

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

Last Updated: Dec 24, 2022