NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) AND Immunodeficiency 27A

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Dec 9, 2015
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:: RCV000600598.4

Allele description [Variation Report for NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)]

NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)

Gene:

IL12RB1:interleukin 12 receptor subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_005535.3(IL12RB1):c.641A>G (p.Gln214Arg)

HGVS:

NC_000019.10:g.18075808T>C
NG_007366.2:g.28142A>G
NM_001290023.2:c.641A>G
NM_001290024.1:c.761A>G
NM_005535.3:c.641A>GMANE SELECT
NM_153701.3:c.641A>G
NP_001276952.1:p.Gln214Arg
NP_001276953.1:p.Gln254Arg
NP_005526.1:p.Gln214Arg
NP_714912.1:p.Gln214Arg
LRG_72t1:c.641A>G
LRG_72:g.28142A>G
NC_000019.9:g.18186618T>C
NM_005535.1:c.641A>G
P42701:p.Gln214Arg

Protein change:

Q214R

Links:

UniProtKB: P42701#VAR_021284; dbSNP: rs11575934

NCBI 1000 Genomes Browser:

rs11575934

Molecular consequence:

NM_001290023.2:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001290024.1:c.761A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005535.3:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_153701.3:c.641A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Immunodeficiency 27A (IMD27A)
Synonyms:: IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE; IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE
Identifiers:: MONDO: MONDO:0008856; MedGen: C4011949; Orphanet: 319569; Orphanet: 99898; OMIM: 209950

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000733864	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Benign	germline	clinical testing
SCV000743866	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely benign (Dec 9, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000733864

Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus

no assertion criteria provided

Benign

germline

clinical testing

SCV000743866

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely benign
(Dec 9, 2015)

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733864.1

#	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 Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743866.1

#	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

Last Updated: Sep 29, 2024

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