NM_000208.4(INSR):c.728G>A (p.Cys243Tyr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jun 18, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001001359.2

Allele description [Variation Report for NM_000208.4(INSR):c.728G>A (p.Cys243Tyr)]

NM_000208.4(INSR):c.728G>A (p.Cys243Tyr)

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.728G>A (p.Cys243Tyr)
HGVS:
  • NC_000019.10:g.7184562C>T
  • NG_008852.2:g.114439G>A
  • NM_000208.4:c.728G>AMANE SELECT
  • NM_001079817.3:c.728G>A
  • NP_000199.2:p.Cys243Tyr
  • NP_001073285.1:p.Cys243Tyr
  • NC_000019.9:g.7184573C>T
Protein change:
C243Y
Links:
dbSNP: rs911809758
NCBI 1000 Genomes Browser:
rs911809758
Molecular consequence:
  • NM_000208.4:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079817.3:c.728G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001158557ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jun 18, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158557.1

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

Description

The INSR c.728G>A; p.Cys243Tyr variant (rs911809758), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The cysteine at codon 243 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Cys243Tyr variant is uncertain at this time.

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

Last Updated: Nov 11, 2021

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