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NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 21, 2022
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:
RCV003224109.8

Allele description [Variation Report for NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)]

NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)

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.1772T>C (p.Ile591Thr)
HGVS:
  • NC_000016.10:g.3243880A>G
  • NG_007871.1:g.17748T>C
  • NM_000243.3:c.1772T>CMANE SELECT
  • NM_001198536.2:c.1314T>C
  • NP_000234.1:p.Ile591Thr
  • NP_001185465.2:p.Asp438=
  • LRG_190t1:c.1772T>C
  • LRG_190:g.17748T>C
  • LRG_190p1:p.Ile591Thr
  • NC_000016.9:g.3293880A>G
  • NM_000243.2:c.1772T>C
  • O15553:p.Ile591Thr
Links:
UniProtKB: O15553#VAR_016827; dbSNP: rs11466045
NCBI 1000 Genomes Browser:
rs11466045
Molecular consequence:
  • NM_000243.3:c.1772T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198536.2:c.1314T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
Synonyms:
FMF, AUTOSOMAL DOMINANT; Dominant Familial Mediterranean Fever
Identifiers:
MONDO: MONDO:0007601; MedGen: C1851347; Orphanet: 342; OMIM: 134610
Name:
Acute febrile neutrophilic dermatosis (AFND)
Synonyms:
Sweet Syndrome; Gomm Button disease
Identifiers:
MONDO: MONDO:0011959; MedGen: C0085077; Orphanet: 3243; OMIM: 608068

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003920209Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Jul 21, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Nothing to display

Details of each submission

From Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003920209.1

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

Description

MEFV NM_000243.2 exon9 p.Ile591Thr (c.1772T>C): This variant has been reported in the literature as a compound heterozygote in at least 2 individuals with Familial Mediterranean Fever (FMF) as well as a heterozygote in at least 5 individuals with FMF (Aldea 2002 PMID:12124996, Tchernitchko 2005 PMID:16255051, Ustek 2008 PMID:19026119, Toutou 2010 PMID:11464238, Ait-Idir 2011 PMID:22019805, Ceylan 2012 PMID:22614345). This variant is present in 2.1% (526/25104) of Finnish alleles, including 2 homozygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/16-3293880-A-G). This variant is present in ClinVar (Variation ID:36506). This variant amino acid Threonine (Thr) is present in >10 species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, despite the high minor allele frequency, 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 18, 2024