NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 24, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003487418.4

Allele description [Variation Report for NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val)]

NM_001289125.3(IFNAR2):c.28T>G (p.Phe10Val)

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.28T>G (p.Phe10Val)

Other names:

p.Phe10Val

HGVS:

NC_000021.9:g.33241950T>G
NG_016003.2:g.17025T>G
NM_000874.5:c.28T>G
NM_001289125.3:c.28T>GMANE SELECT
NM_001289126.2:c.28T>G
NM_001289128.2:c.28T>G
NM_001385054.1:c.28T>G
NM_001385055.1:c.28T>G
NM_207584.3:c.28T>G
NM_207585.3:c.28T>G
NP_000865.2:p.Phe10Val
NP_001276054.1:p.Phe10Val
NP_001276055.1:p.Phe10Val
NP_001276057.1:p.Phe10Val
NP_001371983.1:p.Phe10Val
NP_001371984.1:p.Phe10Val
NP_997467.1:p.Phe10Val
NP_997468.1:p.Phe10Val
NC_000021.8:g.34614255T>G
NM_207585.2:c.28T>G

Protein change:

F10V

Links:

dbSNP: rs1051393

Molecular consequence:

NM_000874.5:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289125.3:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289126.2:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001289128.2:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385054.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001385055.1:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_207584.3:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_207585.3:c.28T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

219

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004233124	Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jan 24, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV007315282	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 13, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15885318, 35241825, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004233124

Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jan 24, 2024)

germline

clinical testing

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

SCV007315282

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Apr 13, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	153	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	66	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response.

Leyva L, Fernández O, Fedetz M, Blanco E, Fernández VE, Oliver B, León A, Pinto-Medel MJ, Mayorga C, Guerrero M, Luque G, Alcina A, Matesanz F.

J Neuroimmunol. 2005 Jun;163(1-2):165-71. Epub 2005 Apr 22.

PubMed [citation]

PMID:: 15885318

Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.

Horowitz JE, Kosmicki JA, Damask A, Sharma D, Roberts GHL, Justice AE, Banerjee N, Coignet MV, Yadav A, Leader JB, Marcketta A, Park DS, Lanche R, Maxwell E, Knight SC, Bai X, Guturu H, Sun D, Baltzell A, Kury FSP, Backman JD, Girshick AR, et al.

Nat Genet. 2022 Apr;54(4):382-392. doi: 10.1038/s41588-021-01006-7. Epub 2022 Mar 3.

PubMed [citation]

PMID:: 35241825
PMCID:: PMC9005345

See all PubMed Citations (3)

Details of each submission

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004233124.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	66	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is classified as Benign based on local population frequency. This variant was detected in 69% of patients studied by a panel of primary immunodeficiencies. Number of patients: 66. Only high quality variants are reported.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		66	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV007315282.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	153	not provided	not provided	clinical testing	PubMed (3)

Description

BA1, BP4

#	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		153	not provided	not provided	not provided

Last Updated: Jun 14, 2026

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