NM_000243.2(MEFV):c.333G>A (p.Gly111=) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jul 10, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000593418.2

Allele description [Variation Report for NM_000243.2(MEFV):c.333G>A (p.Gly111=)]

NM_000243.2(MEFV):c.333G>A (p.Gly111=)

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.333G>A (p.Gly111=)
HGVS:
  • NC_000016.10:g.3254735C>T
  • NG_007871.1:g.6893G>A
  • NM_000243.2:c.333G>A
  • NM_001198536.1:c.277+1576G>A
  • NP_000234.1:p.Gly111=
  • LRG_190t1:c.333G>A
  • LRG_190:g.6893G>A
  • LRG_190p1:p.Gly111=
  • NC_000016.9:g.3304735C>T
  • NM_000243.1:c.333G>A
  • p.Gly111Gly
Links:
dbSNP: rs61732425
NCBI 1000 Genomes Browser:
rs61732425
Molecular consequence:
  • NM_001198536.1:c.277+1576G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.2:c.333G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000709301EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jun 29, 2017)
germlineclinical testing

Citation Link,

SCV001426904Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Jul 10, 2020)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Familial mediterranean Fever in the world.

Ben-Chetrit E, Touitou I.

Arthritis Rheum. 2009 Oct 15;61(10):1447-53. doi: 10.1002/art.24458. Review. No abstract available.

PubMed [citation]
PMID:
19790133

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000709301.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001426904.1

#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 18, 2021

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