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NM_173842.3(IL1RN):c.68C>T (p.Thr23Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV004030897.1

Allele description [Variation Report for NM_173842.3(IL1RN):c.68C>T (p.Thr23Met)]

NM_173842.3(IL1RN):c.68C>T (p.Thr23Met)

Gene:
IL1RN:interleukin 1 receptor antagonist [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q14.1
Genomic location:
Preferred name:
NM_173842.3(IL1RN):c.68C>T (p.Thr23Met)
HGVS:
  • NC_000002.12:g.113127692C>T
  • NG_021240.1:g.14800C>T
  • NM_000577.5:c.14C>T
  • NM_001318914.2:c.-35C>T
  • NM_001379360.1:c.-35C>T
  • NM_173841.3:c.77C>T
  • NM_173842.3:c.68C>TMANE SELECT
  • NM_173843.3:c.-35C>T
  • NP_000568.1:p.Thr5Met
  • NP_776213.1:p.Thr26Met
  • NP_776213.1:p.Thr26Met
  • NP_776214.1:p.Thr23Met
  • LRG_188t1:c.77C>T
  • LRG_188:g.14800C>T
  • LRG_188p1:p.Thr26Met
  • NC_000002.11:g.113885269C>T
  • NM_173841.2:c.77C>T
Protein change:
T23M
Links:
dbSNP: rs55860727
NCBI 1000 Genomes Browser:
rs55860727
Molecular consequence:
  • NM_001318914.2:c.-35C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001379360.1:c.-35C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_173843.3:c.-35C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000577.5:c.14C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173841.3:c.77C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173842.3:c.68C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004887619Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 4, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004887619.1

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

Description

The c.77C>T (p.T26M) alteration is located in exon 3 (coding exon 3) of the IL1RN gene. This alteration results from a C to T substitution at nucleotide position 77, causing the threonine (T) at amino acid position 26 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024