NM_000243.2(MEFV):c.2292G>T (p.Gly764=) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jun 5, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001000190.1

Allele description [Variation Report for NM_000243.2(MEFV):c.2292G>T (p.Gly764=)]

NM_000243.2(MEFV):c.2292G>T (p.Gly764=)

Gene:
MEFV:MEFV innate immuity regulator, pyrin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.2(MEFV):c.2292G>T (p.Gly764=)
HGVS:
  • NC_000016.10:g.3243195C>A
  • NG_007871.1:g.18433G>T
  • NM_000243.2:c.2292G>T
  • NM_001198536.1:c.*496G>T
  • NP_000234.1:p.Gly764=
  • LRG_190t1:c.2292G>T
  • LRG_190:g.18433G>T
  • LRG_190p1:p.Gly764=
  • NC_000016.9:g.3293195C>A
Links:
dbSNP: rs142352887
NCBI 1000 Genomes Browser:
rs142352887
Molecular consequence:
  • NM_001198536.1:c.*496G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000243.2:c.2292G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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
SCV001156687ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jun 5, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001156687.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MEFV c.2292G>T; p.Gly764Gly variant (rs142352887) is reported in the medical literature in an individual with a clinical diagnosis of FMF (Jeske 2013). However, the variant has also been described as likely benign by a group of experts (Van Gijn 2018). The variant is described in the ClinVar database (Variation ID: 378133) and in the general population with an allele frequency of 0.02% (63/282832 alleles) in the Genome Aggregation Database. This is a synonymous variant in a weakly conserved nucleotide but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site, removing a portion of the pyrin domain. Due to conflicting information, the clinical significance of the variant is uncertain at this time. References: Jeske M et al. Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study. Klin Padiatr. 2013 Nov;225(6):325-30. Van Gijn ME et al. New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID). J Med Genet. 2018 Aug;55(8):530-537.

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

Last Updated: Jul 10, 2021

Support Center