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NM_000243.3(MEFV):c.2080A>T (p.Met694Leu) AND Familial Mediterranean fever

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000083739.3

Allele description [Variation Report for NM_000243.3(MEFV):c.2080A>T (p.Met694Leu)]

NM_000243.3(MEFV):c.2080A>T (p.Met694Leu)

Genes:
LOC126862264:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 [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.2080A>T (p.Met694Leu)
HGVS:
  • NC_000016.10:g.3243407T>A
  • NG_007871.1:g.18221A>T
  • NM_000243.3:c.2080A>TMANE SELECT
  • NM_001198536.2:c.*284A>T
  • NP_000234.1:p.Met694Leu
  • LRG_190:g.18221A>T
  • NC_000016.9:g.3293407T>A
  • NM_000243.1:c.2080A>T
  • O15553:p.Met694Leu
Protein change:
M694L
Links:
UniProtKB: O15553#VAR_028345; dbSNP: rs61752717
NCBI 1000 Genomes Browser:
rs61752717
Molecular consequence:
  • NM_001198536.2:c.*284A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000243.3:c.2080A>T - 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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115832Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providedunknownnot provided

SCV001139825Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Uncertain significance
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115832.1

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

From Mendelics, SCV001139825.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024