NM_014339.7(IL17RA):c.26C>T (p.Ser9Phe) AND Immunodeficiency 51

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2021
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:: RCV000796551.8

Allele description [Variation Report for NM_014339.7(IL17RA):c.26C>T (p.Ser9Phe)]

NM_014339.7(IL17RA):c.26C>T (p.Ser9Phe)

Genes:

LOC130066894:ATAC-STARR-seq lymphoblastoid silent region 13430 [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.26C>T (p.Ser9Phe)

HGVS:

NC_000022.11:g.17085117C>T
NG_028257.1:g.5157C>T
NM_001289905.2:c.26C>T
NM_014339.7:c.26C>TMANE SELECT
NP_001276834.1:p.Ser9Phe
NP_055154.3:p.Ser9Phe
NP_055154.3:p.Ser9Phe
LRG_355t1:c.26C>T
LRG_355:g.5157C>T
LRG_355p1:p.Ser9Phe
NC_000022.10:g.17566007C>T
NM_014339.6:c.26C>T

Protein change:

S9F

Links:

dbSNP: rs752407403

NCBI 1000 Genomes Browser:

rs752407403

Molecular consequence:

NM_001289905.2:c.26C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014339.7:c.26C>T - 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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gi|672216957|gb|KJ947993.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000936070	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 1, 2021)	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

SCV000936070

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 1, 2021)

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, SCV000936070.5

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

Description

This sequence change replaces serine with phenylalanine at codon 9 of the IL17RA protein (p.Ser9Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with IL17RA-related conditions. 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.

#	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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