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NM_000243.3(MEFV):c.679A>G (p.Arg227Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 18, 2018
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:
RCV000781525.1

Allele description [Variation Report for NM_000243.3(MEFV):c.679A>G (p.Arg227Gly)]

NM_000243.3(MEFV):c.679A>G (p.Arg227Gly)

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.679A>G (p.Arg227Gly)
HGVS:
  • NC_000016.10:g.3254389T>C
  • NG_007871.1:g.7239A>G
  • NM_000243.3:c.679A>GMANE SELECT
  • NM_001198536.2:c.277+1922A>G
  • NP_000234.1:p.Arg227Gly
  • NP_000234.1:p.Arg227Gly
  • LRG_190t1:c.679A>G
  • LRG_190:g.7239A>G
  • LRG_190p1:p.Arg227Gly
  • NC_000016.9:g.3304389T>C
  • NM_000243.2:c.679A>G
Protein change:
R227G
Links:
dbSNP: rs1302994748
NCBI 1000 Genomes Browser:
rs1302994748
Molecular consequence:
  • NM_001198536.2:c.277+1922A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.3:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000919626Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(May 18, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000919626.1

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

Description

Variant summary: MEFV c.679A>G (p.Arg227Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 3.2e-05 in 30928 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.679A>G in individuals affected with Familial Mediterranean Fever and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Apr 23, 2022