NM_153460.4(IL17RC):c.511G>A (p.Val171Ile) AND Candidiasis, familial, 9

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 1, 2023
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:: RCV003752725.2

Allele description [Variation Report for NM_153460.4(IL17RC):c.511G>A (p.Val171Ile)]

NM_153460.4(IL17RC):c.511G>A (p.Val171Ile)

Gene:

IL17RC:interleukin 17 receptor C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_153460.4(IL17RC):c.511G>A (p.Val171Ile)

HGVS:

NC_000003.12:g.9920536G>A
NG_029376.2:g.8439G>A
NM_001203263.2:c.511G>A
NM_001203264.2:c.511G>A
NM_001203265.2:c.511G>A
NM_001367278.1:c.511G>A
NM_001367279.1:c.436G>A
NM_001367280.1:c.511G>A
NM_001410711.1:c.511G>A
NM_032732.6:c.511G>A
NM_153460.4:c.511G>AMANE SELECT
NM_153461.4:c.724G>A
NP_001190192.2:p.Val171Ile
NP_001190193.2:p.Val171Ile
NP_001190194.2:p.Val171Ile
NP_001354207.1:p.Val171Ile
NP_001354208.1:p.Val146Ile
NP_001354209.1:p.Val171Ile
NP_001397640.1:p.Val171Ile
NP_116121.3:p.Val171Ile
NP_703190.2:p.Val171Ile
NP_703191.2:p.Val242Ile
LRG_1311t1:c.511G>A
LRG_1311:g.8439G>A
LRG_1311p1:p.Val171Ile
NC_000003.11:g.9962220G>A
NR_037807.2:n.729G>A

Protein change:

V146I

Molecular consequence:

NM_001203263.2:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001203264.2:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001203265.2:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367278.1:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367279.1:c.436G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001367280.1:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001410711.1:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032732.6:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_153460.4:c.511G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_153461.4:c.724G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_037807.2:n.729G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Candidiasis, familial, 9 (CANDF9)
Identifiers:: MONDO: MONDO:0014642; MedGen: C4225324; Orphanet: 1334; OMIM: 616445

Recent activity

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syntaxin-binding protein 6 isoform 1 [Homo sapiens]
syntaxin-binding protein 6 isoform 1 [Homo sapiens]
gi|2027535388|ref|NP_001381342.1|

Protein
LOC129661384 [Homo sapiens]
LOC129661384 [Homo sapiens]
Gene ID:129661384

Gene
LOC127402203 [Homo sapiens]
LOC127402203 [Homo sapiens]
Gene ID:127402203

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004471747	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 1, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004471747

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 1, 2023)

germline

clinical testing

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004471747.1

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with IL17RC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 242 of the IL17RC protein (p.Val242Ile).

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

Last Updated: Sep 29, 2024

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