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NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 1, 2020
Accession:
VCV001062325.1
Variation ID:
1062325
Description:
single nucleotide variant
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NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys)

Allele ID
1043589
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p13.1
Genomic location
5: 38506025 (GRCh38) GRCh38 UCSC
5: 38506127 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.38506025C>T
NC_000005.9:g.38506127C>T
NM_001127671.2:c.1171G>A MANE Select NP_001121143.1:p.Glu391Lys missense
... more HGVS
Protein change
E391K
Other names
-
Canonical SPDI
NC_000005.10:38506024:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 1, 2020 RCV001372025.1
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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
Uncertain significance
(Sep 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001568613.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamic acid with lysine at codon 391 of the LIFR protein (p.Glu391Lys). The glutamic acid residue is moderately conserved and there … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Apr 18, 2021