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NM_001198536.1(MEFV):c.277+2004_277+2007dup

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: May 13, 2020)
Last evaluated:
Aug 20, 2021
Accession:
VCV000097544.5
Variation ID:
97544
Description:
4bp duplication
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NM_001198536.1(MEFV):c.277+2004_277+2007dup

Allele ID
103436
Variant type
Duplication
Variant length
4 bp
Cytogenetic location
16p13.3
Genomic location
16: 3254303-3254304 (GRCh38) GRCh38 UCSC
16: 3304303-3304304 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_190:g.7321_7324dup
NC_000016.10:g.3254307_3254310dup
NC_000016.9:g.3304307_3304310dup
... more HGVS
Protein change
N256fs
Other names
-
Canonical SPDI
NC_000016.10:3254303:GCGGGCG:GCGGGCGGGCG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA280657
dbSNP: rs104895138
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Aug 20, 2021 RCV000083796.5
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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
674 722

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: unknown
Mendelics
Accession: SCV001139875.1
Submitted: (Oct 22, 2019)
Evidence details
Uncertain significance
(Jul 15, 2019)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Invitae
Accession: SCV001412092.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Asn256Argfs*70) in the MEFV gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(Aug 20, 2021)
criteria provided, single submitter
Method: clinical testing
Familial Mediterranean fever
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001338531.2
Submitted: (May 13, 2020)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: MEFV c.761_764dupCCGC (p.Asn256ArgfsX70) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
not provided
(-)
no assertion provided
Method: not provided
Familial Mediterranean fever
Allele origin: not provided
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
Accession: SCV000115894.1
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
Familial Mediterranean fever: breaking all the (genetic) rules. Stella A Rheumatology (Oxford, England) 2019 PMID: 30476289
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
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey. Oztuzcu S Molecular biology reports 2014 PMID: 24469716
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population. Lainka E European journal of pediatrics 2012 PMID: 22903357

Text-mined citations for rs104895138...

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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 Sep 07, 2021