NM_014339.7(IL17RA):c.2317A>G (p.Met773Val) AND Immunodeficiency 51

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 11, 2020
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:: RCV001215516.7

Allele description [Variation Report for NM_014339.7(IL17RA):c.2317A>G (p.Met773Val)]

NM_014339.7(IL17RA):c.2317A>G (p.Met773Val)

Gene:

IL17RA:interleukin 17 receptor A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.1

Genomic location:

Preferred name:

NM_014339.7(IL17RA):c.2317A>G (p.Met773Val)

HGVS:

NC_000022.11:g.17109536A>G
NG_028257.1:g.29576A>G
NM_001289905.2:c.2215A>G
NM_014339.7:c.2317A>GMANE SELECT
NP_001276834.1:p.Met739Val
NP_055154.3:p.Met773Val
LRG_355t1:c.2317A>G
LRG_355:g.29576A>G
NC_000022.10:g.17590426A>G
NM_014339.6:c.2317A>G

Protein change:

M739V

Links:

dbSNP: rs776536038

NCBI 1000 Genomes Browser:

rs776536038

Molecular consequence:

NM_001289905.2:c.2215A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014339.7:c.2317A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Immunodeficiency 51 (IMD51)
Synonyms:: CANDIDIASIS, FAMILIAL, 5
Identifiers:: MONDO: MONDO:0013500; MedGen: C4310803; Orphanet: 1334; OMIM: 613953

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001387265	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 11, 2020)	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

SCV001387265

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 11, 2020)

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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001387265.5

#	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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IL17RA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 773 of the IL17RA protein (p.Met773Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine.

#	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: Feb 28, 2024

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