NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: May 1, 2022
Review status:: criteria provided, conflicting classifications

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:: RCV002223870.17

Allele description [Variation Report for NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr)]

NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr)

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.370G>A (p.Ala124Thr)

HGVS:

NC_000002.12:g.113132707G>A
NG_021240.1:g.19815G>A
NM_000577.5:c.316G>A
NM_001318914.2:c.268G>A
NM_001379360.1:c.268G>A
NM_173841.3:c.379G>A
NM_173842.3:c.370G>AMANE SELECT
NM_173843.3:c.268G>A
NP_000568.1:p.Ala106Thr
NP_001305843.1:p.Ala90Thr
NP_001366289.1:p.Ala90Thr
NP_776213.1:p.Ala127Thr
NP_776213.1:p.Ala127Thr
NP_776214.1:p.Ala124Thr
NP_776215.1:p.Ala90Thr
LRG_188t1:c.379G>A
LRG_188:g.19815G>A
LRG_188p1:p.Ala127Thr
NC_000002.11:g.113890284G>A
NM_173841.2:c.379G>A

Protein change:

A106T

Links:

dbSNP: rs45507693

NCBI 1000 Genomes Browser:

rs45507693

Molecular consequence:

NM_000577.5:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001318914.2:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379360.1:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_173841.3:c.379G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_173842.3:c.370G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_173843.3:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002503295	AiLife Diagnostics, AiLife Diagnostics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 8, 2020)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25501066, 25741868
SCV002544065	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (May 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002503295

AiLife Diagnostics, AiLife Diagnostics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 8, 2020)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV002544065

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(May 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.

Marzano AV, Ceccherini I, Gattorno M, Fanoni D, Caroli F, Rusmini M, Grossi A, De Simone C, Borghi OM, Meroni PL, Crosti C, Cugno M.

Medicine (Baltimore). 2014 Dec;93(27):e187. doi: 10.1097/MD.0000000000000187. Erratum in: Medicine (Baltimore). 2015 Apr;94(15):1. Medicine (Baltimore). 2015 Feb;94(8):1. doi: 10.1097/01.md.0000462395.68470.98.

PubMed [citation]

PMID:: 25501066
PMCID:: PMC4602806

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From AiLife Diagnostics, AiLife Diagnostics, SCV002503295.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	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		1	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV002544065.15

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

Description

IL1RN: BP4, BS1, BS2

#	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		3	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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