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NM_000243.3(MEFV):c.694T>C (p.Tyr232His) AND Familial Mediterranean fever

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000083790.2

Allele description [Variation Report for NM_000243.3(MEFV):c.694T>C (p.Tyr232His)]

NM_000243.3(MEFV):c.694T>C (p.Tyr232His)

Gene:
MEFV:MEFV innate immunity regulator, pyrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.3(MEFV):c.694T>C (p.Tyr232His)
HGVS:
  • NC_000016.10:g.3254374A>G
  • NG_007871.1:g.7254T>C
  • NM_000243.3:c.694T>CMANE SELECT
  • NM_001198536.2:c.277+1937T>C
  • NP_000234.1:p.Tyr232His
  • LRG_190:g.7254T>C
  • NC_000016.9:g.3304374A>G
  • NM_000243.1:c.694T>C
Protein change:
Y232H
Links:
dbSNP: rs104895205
NCBI 1000 Genomes Browser:
rs104895205
Molecular consequence:
  • NM_001198536.2:c.277+1937T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.3:c.694T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial Mediterranean fever (FMF)
Synonyms:
POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; Periodic peritonitis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018088; MedGen: C0031069; Orphanet: 342; OMIM: 249100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115888Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providedunknownnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115888.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024