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NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000194373.11
Variation ID:
194373
Description:
single nucleotide variant
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NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met)

Allele ID
191536
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p13.1
Genomic location
5: 38493772 (GRCh38) GRCh38 UCSC
5: 38493874 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P42702:p.Ile633Met
NC_000005.9:g.38493874T>C
NM_002310.6:c.1899A>G NP_002301.1:p.Ile633Met missense
... more HGVS
Protein change
I633M
Other names
-
Canonical SPDI
NC_000005.10:38493771:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00919 (C)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Trans-Omics for Precision Medicine (TOPMed) 0.00590
The Genome Aggregation Database (gnomAD) 0.00688
Exome Aggregation Consortium (ExAC) 0.00713
The Genome Aggregation Database (gnomAD), exomes 0.00893
1000 Genomes Project 0.00919
Links
ClinGen: CA201148
UniProtKB: P42702#VAR_021996
dbSNP: rs2303743
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Aug 2, 2019 RCV000265907.5
Benign 3 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000443237.7
Benign 1 criteria provided, single submitter Jan 6, 2015 RCV000174730.2
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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
Benign
(Jan 06, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000226091.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://exac.broadinstitute.org/g…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Jan 05, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000511794.1
Submitted: (Feb 17, 2017)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Stüve-Wiedemann syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000457590.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Aug 02, 2019)
criteria provided, single submitter
Method: clinical testing
Stüve-Wiedemann syndrome
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000604098.3
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001097007.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 21, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001837391.1
Submitted: (Sep 07, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Stuve-Wiedemann syndrome
Allele origin: germline
Natera, Inc.
Accession: SCV001462555.1
Submitted: (Dec 28, 2020)
Evidence details

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.

Text-mined citations for rs2303743...

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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 24, 2021