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NM_000243.3(MEFV):c.-12C>G 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:
RCV000083678.3

Allele description [Variation Report for NM_000243.3(MEFV):c.-12C>G]

NM_000243.3(MEFV):c.-12C>G

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.-12C>G
HGVS:
  • NC_000016.10:g.3256599G>C
  • NG_007871.1:g.5029C>G
  • NM_000243.3:c.-12C>GMANE SELECT
  • NM_001198536.2:c.-12C>G
  • LRG_190:g.5029C>G
  • NC_000016.9:g.3306599G>C
  • NM_000243.1:c.-12C>G
Links:
dbSNP: rs104895148
NCBI 1000 Genomes Browser:
rs104895148
Molecular consequence:
  • NM_000243.3:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001198536.2:c.-12C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

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
SCV000115764Unité médicale des maladies autoinflammatoires, CHRU Montpellier
no classification provided
not providedunknownnot provided

SCV001139900Mendelics
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 providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Unité médicale des maladies autoinflammatoires, CHRU Montpellier, SCV000115764.1

#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, SCV001139900.1

#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