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

Germline classification:: other (1 submission)
Last evaluated:: Dec 10, 2022
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:: RCV003311942.3

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:: Cholangiocarcinoma
Identifiers:: MONDO: MONDO:0019087; MeSH: D018281; MedGen: C0206698; Human Phenotype Ontology: HP:0030153

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004011737	Department of Surgery, Campus Charité Mitte \| Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin	no assertion criteria provided	other (Dec 10, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004011737

Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin

no assertion criteria provided

other
(Dec 10, 2022)

germline

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Polymorphisms in VEGF and IL-8 predict tumor recurrence in stage III colon cancer.

Lurje G, Zhang W, Schultheis AM, Yang D, Groshen S, Hendifar AE, Husain H, Gordon MA, Nagashima F, Chang HM, Lenz HJ.

Ann Oncol. 2008 Oct;19(10):1734-41. doi: 10.1093/annonc/mdn368. Epub 2008 Jun 11.

PubMed [citation]

PMID:: 18550579
PMCID:: PMC2735064

Details of each submission

From Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin, SCV004011737.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

Description

C/C genotype associated with significantly shorter OS after surgical resection of intrahepatic CCA

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

Last Updated: May 16, 2025

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