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NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Recurrent fever

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 6, 2023
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:
RCV003325449.6

Allele description [Variation Report for NM_000243.3(MEFV):c.2080A>G (p.Met694Val)]

NM_000243.3(MEFV):c.2080A>G (p.Met694Val)

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>G (p.Met694Val)
Other names:
M694V; NM_000243.2(MEFV):c.2080A>G(p.Met694Val)
HGVS:
  • NC_000016.10:g.3243407T>C
  • NG_007871.1:g.18221A>G
  • NM_000243.3:c.2080A>GMANE SELECT
  • NM_001198536.2:c.*284A>G
  • NP_000234.1:p.Met694Val
  • NP_000234.1:p.Met694Val
  • LRG_190t1:c.2080A>G
  • LRG_190:g.18221A>G
  • LRG_190p1:p.Met694Val
  • NC_000016.9:g.3293407T>C
  • NM_000243.2:c.2080A>G
  • O15553:p.Met694Val
  • c.2080A>G (p.Met694Val)
Protein change:
MET694VAL
Links:
UniProtKB: O15553#VAR_009062; OMIM: 608107.0001; dbSNP: rs61752717
NCBI 1000 Genomes Browser:
rs61752717
Molecular consequence:
  • NM_001198536.2:c.*284A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000243.3:c.2080A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Recurrent fever
Synonyms:
Episodic fever
Identifiers:
MedGen: C3714772; Human Phenotype Ontology: HP:0001954

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004032056Clinical Genetics Laboratory, Skane University Hospital Lund
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 6, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV004032056.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024