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NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 2020
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:
RCV001811542.13

Allele description [Variation Report for NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)]

NM_000243.3(MEFV):c.344C>G (p.Pro115Arg)

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.344C>G (p.Pro115Arg)
HGVS:
  • NC_000016.10:g.3254724G>C
  • NG_007871.1:g.6904C>G
  • NM_000243.3:c.344C>GMANE SELECT
  • NM_001198536.2:c.277+1587C>G
  • NP_000234.1:p.Pro115Arg
  • NP_000234.1:p.Pro115Arg
  • LRG_190t1:c.344C>G
  • LRG_190:g.6904C>G
  • LRG_190p1:p.Pro115Arg
  • NC_000016.9:g.3304724G>C
  • NM_000243.2:c.344C>G
Protein change:
P115R
Links:
dbSNP: rs201766654
NCBI 1000 Genomes Browser:
rs201766654
Molecular consequence:
  • NM_001198536.2:c.277+1587C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.3:c.344C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001473606ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Aug 8, 2020) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473606.1

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

Description

The MEFV c.344C>G; p.Pro115Arg (rs201766654) variant is reported in the literature in two Asian individuals with periodic fever syndrome (Li 2019, Taniuchi 2013). The variant is reported in the ClinVar database (Variation ID: 763253) and in the East Asian population with an allele frequency of 0.25% (50/19828 alleles including 1 homozygote) in the Genome Aggregation Database. The proline at codon 115 is moderately conserved and computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. However, given the lack of clinical and functional data, the significance of the p.Pro115Arg variant is uncertain at this time. References: Li J et al. Familial Mediterranean Fever in Chinese Children: A Case Series. Front Pediatr. 2019 Nov 19;7:483. Taniuchi S et al. MEFV Variants in Patients with PFAPA Syndrome in Japan. Open Rheumatol J. 2013 Apr 19;7:22-5.

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

Last Updated: Jun 29, 2024