NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: May 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001027835.1

Allele description [Variation Report for NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)]

NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)

Gene:
MEFV:MEFV innate immuity regulator, pyrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
HGVS:
  • NC_000016.10:g.3254380C>T
  • NG_007871.1:g.7248G>A
  • NM_000243.2:c.688G>A
  • NM_000243.3:c.688G>AMANE SELECT
  • NM_001198536.2:c.277+1931G>A
  • NP_000234.1:p.Glu230Lys
  • NP_000234.1:p.Glu230Lys
  • LRG_190t1:c.688G>A
  • LRG_190:g.7248G>A
  • LRG_190p1:p.Glu230Lys
  • NC_000016.9:g.3304380C>T
  • NM_000243.1:c.688G>A
  • O15553:p.Glu230Lys
Protein change:
E230K
Links:
UniProtKB: O15553#VAR_016826; dbSNP: rs104895080
NCBI 1000 Genomes Browser:
rs104895080
Molecular consequence:
  • NM_001198536.2:c.277+1931G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000243.3:c.688G>A - 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
Name:
Familial mediterranean fever, autosomal dominant (DFMF)
Synonyms:
FMF, AUTOSOMAL DOMINANT; Dominant Familial Mediterranean Fever
Identifiers:
MONDO: MONDO:0007601; MedGen: C1851347; Orphanet: 342; OMIM: 134610

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001190455Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicagocriteria provided, single submitter
Uncertain significance
(May 14, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV001190455.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

MEFV NM_000243.2 exon 2 p.Glu230Lys (c.688G>A): This variant has been reported in the literature in at least 3 individuals with features of Familial Mediteranean Fever (FMF), at least one of whom represented a compound heterozygote in trans with a known pathogenic variant (Timmann 2001 PMID:1147095, Touitou 2001 PMID:11464238, Ceylan 2012 PMID:29178647). In addition, this variant was also identified in 1 individual with features of FMF and multiple sclerosis (Blaschek 2010 PMID:20876156). This variant is present in 0.4% (143/30614) of South Asian alleles, including 1 homozygote, in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-3304380-C-T). This variant is present in ClinVar (Variation ID:97537). Evolutionary conservation for this variant is unclear; however, this variant Lysine (Lys) is present in 2 primates. Computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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

Last Updated: Nov 27, 2021

Support Center