NM_153460.4(IL17RC):c.2133C>G (p.Gly711=) AND not provided

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 10, 2018
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:: RCV001673074.3

Allele description [Variation Report for NM_153460.4(IL17RC):c.2133C>G (p.Gly711=)]

NM_153460.4(IL17RC):c.2133C>G (p.Gly711=)

Genes:

CRELD1:cysteine rich with EGF like domains 1 [Gene - OMIM - HGNC]
LOC129936144:ATAC-STARR-seq lymphoblastoid silent region 14051 [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.2133C>G (p.Gly711=)

HGVS:

NC_000003.12:g.9933563C>G
NG_017069.1:g.4723C>G
NG_029376.2:g.21466C>G
NM_001203263.2:c.2094C>G
NM_001203264.2:c.2043C>G
NM_001203265.2:c.2037C>G
NM_001367278.1:c.2055C>G
NM_001367279.1:c.1974C>G
NM_001367280.1:c.2049C>G
NM_032732.6:c.2088C>G
NM_153460.4:c.2133C>GMANE SELECT
NM_153461.4:c.2346C>G
NP_001190192.2:p.Gly698=
NP_001190193.2:p.Gly681=
NP_001190194.2:p.Gly679=
NP_001354207.1:p.Gly685=
NP_001354208.1:p.Gly658=
NP_001354209.1:p.Gly683=
NP_116121.3:p.Gly696=
NP_703190.2:p.Gly711=
NP_703191.2:p.Gly782=
LRG_1311t1:c.2133C>G
LRG_1311:g.21466C>G
LRG_1311p1:p.Gly711=
NC_000003.11:g.9975247C>G
NM_153461.3:c.2346C>G
NR_037807.2:n.2517C>G

Links:

dbSNP: rs183956

NCBI 1000 Genomes Browser:

rs183956

Molecular consequence:

NR_037807.2:n.2517C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001203263.2:c.2094C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001203264.2:c.2043C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001203265.2:c.2037C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001367278.1:c.2055C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001367279.1:c.1974C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001367280.1:c.2049C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_032732.6:c.2088C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_153460.4:c.2133C>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_153461.4:c.2346C>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001891808	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Nov 10, 2018)	germline	clinical testing	Citation Link,
SCV002074664	GenomeConnect, ClinGen	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001891808

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Nov 10, 2018)

germline

clinical testing

Citation Link,

SCV002074664

GenomeConnect, ClinGen

no classification provided

not provided

unknown

phenotyping only

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	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GeneDx, SCV001891808.1

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

#	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

From GenomeConnect, ClinGen, SCV002074664.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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

Last Updated: Feb 28, 2024

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