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NM_000243.3(MEFV):c.1773T>G (p.Ile591Met) AND Familial Mediterranean fever, autosomal dominant

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 8, 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:
RCV003127571.1

Allele description [Variation Report for NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)]

NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)

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.1773T>G (p.Ile591Met)
HGVS:
  • NC_000016.10:g.3243879A>C
  • NG_007871.1:g.17749T>G
  • NM_000243.3:c.1773T>GMANE SELECT
  • NM_001198536.2:c.1315T>G
  • NP_000234.1:p.Ile591Met
  • NP_000234.1:p.Ile591Met
  • NP_001185465.2:p.Trp439Gly
  • LRG_190t1:c.1773T>G
  • LRG_190:g.17749T>G
  • LRG_190p1:p.Ile591Met
  • NC_000016.9:g.3293879A>C
  • NM_000243.2:c.1773T>G
Protein change:
I591M
Links:
dbSNP: rs141706767
NCBI 1000 Genomes Browser:
rs141706767
Molecular consequence:
  • NM_000243.3:c.1773T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001198536.2:c.1315T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial Mediterranean fever, autosomal dominant
Synonyms:
FMF, AUTOSOMAL DOMINANT; Dominant Familial Mediterranean Fever
Identifiers:
MONDO: MONDO:0007601; MedGen: C1851347; Orphanet: 342; OMIM: 134610

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003802035Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Feb 8, 2023) 		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

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 Genome-Nilou Lab, SCV003802035.1

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

Last Updated: Sep 29, 2024