U.S. flag

An official website of the United States government

  • replaced

NM_000243.2(MEFV):c.2074_2076delATA (p.Ile692del) AND Familial Mediterranean fever

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 1998
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000002655.2

Allele description

NM_000243.2(MEFV):c.2074_2076delATA (p.Ile692del)

Gene:
MEFV:Mediterranean fever [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.2(MEFV):c.2074_2076delATA (p.Ile692del)
HGVS:
  • NC_000016.10:g.3243411_3243413delTAT
  • NG_007871.1:g.18215_18217delATA
  • NM_000243.2:c.2074_2076delATA
  • NM_001198536.1:c.*278_*280delATA
  • NP_000234.1:p.Ile692del
  • LRG_190t1:c.2074_2076delATA
  • LRG_190:g.18215_18217delATA
  • LRG_190p1:p.Ile692del
  • NC_000016.9:g.3293411_3293413delTAT
  • NP_000234.1:p.Ile692delIle
Protein change:
I692del; ILE692DEL
Links:
OMIM: 608107.0009; dbSNP: rs121907890
NCBI 1000 Genomes Browser:
rs121907890
Molecular consequence:
  • NM_001198536.1:c.*278_*280delATA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000243.2:c.2074_2076delATA - inframe_variant - [Sequence Ontology: SO:0001650]

Condition(s)

Name:
Familial Mediterranean fever (FMF)
Synonyms:
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL RECESSIVE; POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; See all synonyms [MedGen]
Identifiers:
MedGen: C0031069; Orphanet: 342; OMIM: 249100
Age of onset:
Infancy
Prevalence:
>1 / 1000 342

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022813OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 1998) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dodé C, Pêcheux C, Nédelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I.

Hum Mol Genet. 1998 Aug;7(8):1317-25.

PubMed [citation]
PMID:
9668175

Details of each submission

From OMIM, SCV000022813.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See Bernot et al. (1998).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 5, 2015