NM_000208.4(INSR):c.1650G>A (p.Ala550=) AND Pineal hyperplasia AND diabetes mellitus syndrome

Clinical significance:Benign (Last evaluated: Aug 19, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000347847.3

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:
Pineal hyperplasia AND diabetes mellitus syndrome
Synonyms:
Mendenhall Syndrome; Rabson-Mendenhall 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000415539Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jan 15, 2018)
germlineclinical testing

Citation Link,

SCV001981356Nilou-Genome Labcriteria provided, single submitter
Benign
(Aug 19, 2021)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000415539.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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

From Nilou-Genome Lab, SCV001981356.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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