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NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Oct 15, 2021)
Last evaluated:
Oct 29, 2020
Accession:
VCV000378132.7
Variation ID:
378132
Description:
single nucleotide variant
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NM_000243.3(MEFV):c.1459G>C (p.Val487Leu)

Allele ID
377552
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3247144 (GRCh38) GRCh38 UCSC
16: 3297144 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_190:g.14484G>C
LRG_190t1:c.1459G>C LRG_190p1:p.Val487Leu
NC_000016.9:g.3297144C>G
... more HGVS
Protein change
V487L, V276L
Other names
-
Canonical SPDI
NC_000016.10:3247143:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00082
Trans-Omics for Precision Medicine (TOPMed) 0.00269
1000 Genomes Project 0.00100
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00269
The Genome Aggregation Database (gnomAD) 0.00207
Links
ClinGen: CA7860122
dbSNP: rs104895100
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 28, 2020 RCV000439116.3
Likely benign 1 criteria provided, single submitter Oct 29, 2020 RCV000531412.5
Likely benign 3 criteria provided, single submitter Jan 6, 2020 RCV001712195.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MEFV No evidence available No evidence available GRCh38
GRCh37
692 740

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 06, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000513592.5
Submitted: (Sep 28, 2021)
Evidence details
Uncertain significance
(Sep 28, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001437218.1
Submitted: (Oct 06, 2020)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: MEFV c.1459G>C (p.Val487Leu) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign … (more)
Likely benign
(Oct 29, 2020)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Invitae
Accession: SCV000629022.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001978239.1
Submitted: (Oct 15, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001980289.1
Submitted: (Oct 15, 2021)
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.

Citations for this variant

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Title Author Journal Year Link
Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever. Accetturo M Rheumatology (Oxford, England) 2020 PMID: 31411330
The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T). Gumus E Journal of clinical medicine 2018 PMID: 29735907
New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). Van Gijn ME Journal of medical genetics 2018 PMID: 29599418
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF. Moradian MM Molecular genetics & genomic medicine 2017 PMID: 29178647

Text-mined citations for rs104895100...

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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 Dec 04, 2021