VCV001170800.41 - ClinVar

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

Germline

Classification

criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.

Benign
Benign (5)

5 out of 6 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

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

Variation ID: 1170800 Accession: VCV001170800.41

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 21q22.11 21: 33241950 (GRCh38) [ NCBI UCSC ] 21: 34614255 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jun 15, 2021	Feb 23, 2026	Feb 4, 2026

HGVS

Nucleotide	Protein	Molecular consequence
NM_001289125.3:c.28T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_001276054.1:p.Phe10Val	missense
NM_000874.5:c.28T>G	NP_000865.2:p.Phe10Val	missense
NM_001289126.2:c.28T>G	NP_001276055.1:p.Phe10Val	missense
NM_001289128.2:c.28T>G	NP_001276057.1:p.Phe10Val	missense
NM_001385054.1:c.28T>G	NP_001371983.1:p.Phe10Val	missense
NM_001385055.1:c.28T>G	NP_001371984.1:p.Phe10Val	missense
NM_207584.3:c.28T>G	NP_997467.1:p.Phe10Val	missense
NM_207585.2:c.28T>G
NM_207585.3:c.28T>G	NP_997468.1:p.Phe10Val	missense
NC_000021.9:g.33241950T>G
NC_000021.8:g.34614255T>G
NG_016003.2:g.17025T>G

... more HGVS ... less HGVS

Protein change

F10V

Other names

p.Phe10Val

Canonical SPDI

NC_000021.9:33241949:T:G

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.39177 (G)

Allele frequency Help The frequency of the allele represented by this VCV record.

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.27326

Trans-Omics for Precision Medicine (TOPMed) 0.31073

1000 Genomes Project 30x 0.38804

1000 Genomes Project 0.39177

Links

ClinGen: CA10005496 dbSNP: rs1051393 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
IFNAR2		-	-	GRCh38 GRCh37	3	413
IFNAR2-IL10RB	-	-	-	GRCh38	-	658

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
not provided	Benign (2)	criteria provided, multiple submitters, no conflicts	Feb 4, 2026	RCV001523494.10
Immunodeficiency 45	Benign (1)	criteria provided, single submitter	Aug 10, 2021	RCV001702610.3
not specified	Benign (2)	criteria provided, multiple submitters, no conflicts	Jan 24, 2024	RCV003487418.4
Mortality risk in patients with severe coronavirus disease (COVID-19)	association (1)	no assertion criteria provided	May 6, 2022	RCV002329653.2

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Benign (Aug 10, 2021) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Immunodeficiency 45	Genome-Nilou Lab Accession: SCV001933270.1 First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: no Observation 1 Collection method: clinical testing Allele origin: germline Affected status: no

Benign (-) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided (Autosomal recessive inheritance)	Breakthrough Genomics, Breakthrough Genomics Accession: SCV005307708.1 First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024	Observation: 1 Collection method: not provided Allele origin: germline Affected status: yes Observation 1 Collection method: not provided Allele origin: germline Affected status: yes

Benign (Jan 24, 2024) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not specified	Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan Accession: SCV004233124.2 First in ClinVar: Feb 04, 2024 Last updated: Apr 13, 2025	Comment: show 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. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: no more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: no Number of individuals with the variant: 66 Age: <18 years Sex: mixed

Benign (Apr 13, 2023) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Not specified	Mayo Clinic Laboratories, Mayo Clinic Accession: SCV007315282.1 First in ClinVar: Jan 17, 2026 Last updated: Jan 17, 2026	Publications: PubMed (2) PubMed: 15885318‚ 35241825 Comment: show BA1, BP4 (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown more Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Number of individuals with the variant: 153

Benign (Feb 04, 2026) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	not provided	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV001733204.6 First in ClinVar: Jun 15, 2021 Last updated: Feb 23, 2026	Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

association (May 06, 2022) N Not contributing to aggregate classification	no assertion criteria provided	Mortality risk in patients with severe coronavirus disease (COVID-19)	Pneumogenomics Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas Accession: SCV002515914.1 First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022	Observation: 1 Collection method: research Allele origin: germline Affected status: yes more Observation 1 Collection method: research Allele origin: germline Affected status: yes Platform type: PCR

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease.	Horowitz JE	Nature genetics	2022	PMID: 35241825
IFNAR1 and IFNAR2 polymorphisms confer susceptibility to multiple sclerosis but not to interferon-beta treatment response.	Leyva L	Journal of neuroimmunology	2005	PMID: 15885318

Text-mined citations for rs1051393 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2026