NM_000208.4(INSR):c.*334del AND Leprechaunism syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000274459.2

Allele description [Variation Report for NM_000208.4(INSR):c.*334del]

NM_000208.4(INSR):c.*334del

Gene:
INSR:insulin receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000208.4(INSR):c.*334del
HGVS:
  • NC_000019.10:g.7116722del
  • NG_008852.2:g.182279del
  • NM_000208.4:c.*334delMANE SELECT
  • NM_001079817.3:c.*334del
  • NC_000019.9:g.7116733del
  • NM_000208.2:c.*334delC
Links:
dbSNP: rs886054683
NCBI 1000 Genomes Browser:
rs886054683
Molecular consequence:
  • NM_000208.4:c.*334del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001079817.3:c.*334del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Leprechaunism syndrome
Synonyms:
Leprechaunism
Identifiers:
MONDO: MONDO:0009517; MedGen: C0265344; Orphanet: 508; OMIM: 246200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000415403Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000415403.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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