NM_000576.3(IL1B):c.315C>T (p.Phe105=) AND Endometriosis

Germline classification:: Affects (1 submission)
Last evaluated:: Oct 20, 2021
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:: RCV001824064.3

Allele description [Variation Report for NM_000576.3(IL1B):c.315C>T (p.Phe105=)]

NM_000576.3(IL1B):c.315C>T (p.Phe105=)

Gene:

IL1B:interleukin 1 beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q14.1

Genomic location:

Preferred name:

NM_000576.3(IL1B):c.315C>T (p.Phe105=)

HGVS:

NC_000002.12:g.112832813G>A
NG_008851.1:g.8967C>T
NM_000576.2:c.315C>T
NM_000576.3:c.315C>TMANE SELECT
NP_000567.1:p.Phe105=
NC_000002.11:g.113590390G>A

Links:

dbSNP: rs1143634

NCBI 1000 Genomes Browser:

rs1143634

Molecular consequence:

NM_000576.3:c.315C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Endometriosis
Synonyms:: Endometriosis (disease)
Identifiers:: MONDO: MONDO:0005133; MeSH: D004715; MedGen: C0014175; Human Phenotype Ontology: HP:0030127

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002073727	Laboratorio de Investigación del Departamento de Salud, Universidad Iberoamericana A.C.	no assertion criteria provided	Affects (Oct 20, 2021)	somatic	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002073727

Laboratorio de Investigación del Departamento de Salud, Universidad Iberoamericana A.C.

no assertion criteria provided

Affects
(Oct 20, 2021)

somatic

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Mexican mestizo	somatic	yes	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Laboratorio de Investigación del Departamento de Salud, Universidad Iberoamericana A.C., SCV002073727.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Mexican mestizo	not provided	not provided	not provided	case-control	not provided

Description

Mexican mestizo women with severe stage of endometriosis have higher frequencies of TNF*2-, IL1B*2- and IL1RN*2-alleles, which may explain a possible correlation with disease severity rather than predisposition or risk.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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