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NM_001289125.3(IFNAR2):c.541-50A>G AND Immunodeficiency 45

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 23, 2024
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:
RCV003492742.1

Allele description [Variation Report for NM_001289125.3(IFNAR2):c.541-50A>G]

NM_001289125.3(IFNAR2):c.541-50A>G

Genes:
IFNAR2-IL10RB:IFNAR2-IL10RB readthrough [Gene]
IFNAR2:interferon alpha and beta receptor subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_001289125.3(IFNAR2):c.541-50A>G
HGVS:
  • NC_000021.9:g.33252612A>G
  • NG_016003.2:g.27687A>G
  • NM_000874.5:c.541-50A>G
  • NM_001289125.3:c.541-50A>GMANE SELECT
  • NM_001289126.2:c.541-50A>G
  • NM_001289128.2:c.541-50A>G
  • NM_001385054.1:c.541-50A>G
  • NM_001385055.1:c.541-50A>G
  • NM_207584.3:c.541-50A>G
  • NM_207585.3:c.541-50A>G
  • NC_000021.8:g.34624917A>G
Molecular consequence:
  • NM_000874.5:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289125.3:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289126.2:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001289128.2:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385054.1:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001385055.1:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207584.3:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_207585.3:c.541-50A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Immunodeficiency 45 (IMD45)
Identifiers:
MONDO: MONDO:0014727; MedGen: C4225252; OMIM: 616669

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004232621Mendelics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jan 23, 2024)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mendelics, SCV004232621.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024