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NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
9 (Most recent: Oct 4, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000097532.11
Variation ID:
97532
Description:
single nucleotide variant
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NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)

Allele ID
103424
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 3254482 (GRCh38) GRCh38 UCSC
16: 3304482 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
O15553:p.Gly196Trp
NC_000016.10:g.3254482C>A
NG_007871.1:g.7146G>T
... more HGVS
Protein change
G196W
Other names
-
Canonical SPDI
NC_000016.10:3254481:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00559 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00326
Trans-Omics for Precision Medicine (TOPMed) 0.00492
1000 Genomes Project 0.00559
Links
ClinGen: CA201518
UniProtKB: O15553#VAR_072382
dbSNP: rs104895179
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Apr 3, 2015 RCV000175563.6
Uncertain significance 1 criteria provided, single submitter Jul 1, 2020 RCV001283563.2
Uncertain significance 1 criteria provided, single submitter Jul 23, 2020 RCV001731372.1
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Nov 23, 2020 RCV000083784.6
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 3, 2019 RCV000587560.5
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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
691 739

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 03, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000227071.5
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (1)
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Uncertain significance
(Jul 20, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696076.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (8)
Comment:
Variant Summary: The MEFV variant, c.586G>T (p.Gly196Trp), causes a missense change involving a non-conserved nucleotide with 2/4 in silico tools (SNPs&GO not captured here due … (more)
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: unknown
Mendelics
Accession: SCV001139883.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(Jul 01, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000604183.2
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The MEFV c.586G>T; p.Gly196Trp variant (rs104895179) is reported in the literature in several individuals with periodic fever or autoimmune syndromes (Cantarini 2012, Oztuzcu 2014 ). … (more)
Benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Invitae
Accession: SCV000753991.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 03, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000279039.9
Submitted: (Sep 25, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the … (more)
Uncertain significance
(Jul 23, 2020)
criteria provided, single submitter
Method: clinical testing
Familial mediterranean fever, autosomal dominant
Allele origin: germline
Al Jalila Children's Genomics Center,Al Jalila Childrens Speciality Hospital
Accession: SCV001984445.1
Submitted: (Oct 04, 2021)
Comment:
The p.Gly196Trp missense variant in MEFV has been previously reported in the heterozygous state in one patient with systemic-onset juvenile idiopathic arthritis (PMID: 20044784) and … (more)
Evidence details
Likely benign
(Jan 06, 2020)
no assertion criteria provided
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Natera, Inc.
Accession: SCV001462424.1
Submitted: (Dec 28, 2020)
Evidence details
not provided
(-)
no assertion provided
Method: not provided
Familial Mediterranean fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115882.1
Submitted: (Jun 07, 2010)
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
Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V). Gunesacar R Gene 2014 PMID: 24929125
MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis. Lotfy HM Molecular diagnosis & therapy 2014 PMID: 24862656
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey. Oztuzcu S Molecular biology reports 2014 PMID: 24469716
Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever. Timerman D Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2013 PMID: 24263150
The scintigraphic evaluation and genetic correlation of joint involvements in pediatric patients with familial Mediterranean fever. Aydogan F Human & experimental toxicology 2013 PMID: 23155201
An informatics approach to analyzing the incidentalome. Berg JS Genetics in medicine : official journal of the American College of Medical Genetics 2013 PMID: 22995991
Hereditary autoinflammatory syndromes: a Brazilian multicenter study. Jesus AA Journal of clinical immunology 2012 PMID: 22566169
Systemic-onset juvenile idiopathic arthritis complicated by early onset amyloidosis in a patient carrying a mutation in the MEFV gene. Cantarini L Rheumatology international 2012 PMID: 20044784
Familial mediterranean Fever in the world. Ben-Chetrit E Arthritis and rheumatism 2009 PMID: 19790133
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MEFV - - - -
http://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/?chr=16&from=3304482&to=3304482 - - - -

Text-mined citations for rs104895179...

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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 Nov 20, 2021