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NM_001127671.2(LIFR):c.653dup (p.Glu219fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 10, 2019
Accession:
VCV000281444.4
Variation ID:
281444
Description:
1bp duplication
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NM_001127671.2(LIFR):c.653dup (p.Glu219fs)

Allele ID
265681
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5p13.1
Genomic location
5: 38511872-38511873 (GRCh38) GRCh38 UCSC
5: 38511974-38511975 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_011817.1:g.88533dup
NC_000005.10:g.38511873dup
NC_000005.9:g.38511975dup
... more HGVS
Protein change
E219fs
Other names
-
Canonical SPDI
NC_000005.10:38511872:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10603880
OMIM: 151443.0001
dbSNP: rs886042160
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 10, 2019 RCV000790750.3
Pathogenic 1 no assertion criteria provided Feb 1, 2004 RCV000348821.2
Pathogenic 1 no assertion criteria provided Dec 30, 2017 RCV000761445.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LIFR - - GRCh38
GRCh37
516 548

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 19, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332228.3
Submitted: (Nov 03, 2016)
Evidence details
Other databases
http://geneticslab.emory.edu/emv…
Pathogenic
(Sep 10, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001374288.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Glu219Glyfs*3) in the LIFR gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Feb 01, 2004)
no assertion criteria provided
Method: literature only
STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME
Allele origin: germline
OMIM
Accession: SCV000035810.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Dec 30, 2017)
no assertion criteria provided
Method: curation
Familial hemophagocytic lymphohistiocytosis 2
Allele origin: unknown
Department of Genetics,Sultan Qaboos University Hospital, Oman
Accession: SCV000891529.1
Submitted: (Oct 25, 2018)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Dagoneau N American journal of human genetics 2004 PMID: 14740318
http://geneticslab.emory.edu/emvclass/emvclass.php?approved_symbol=LIFR - - - -

Text-mined citations for rs886042160...

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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 Oct 08, 2021