NM_000243.2(MEFV):c.549G>A (p.Pro183=) AND not provided

Clinical significance:Likely benign (Last evaluated: Sep 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000757454.1

Allele description [Variation Report for NM_000243.2(MEFV):c.549G>A (p.Pro183=)]

NM_000243.2(MEFV):c.549G>A (p.Pro183=)

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.549G>A (p.Pro183=)
Other names:
p.P183P:CCG>CCA
HGVS:
  • NC_000016.10:g.3254519C>T
  • NG_007871.1:g.7109G>A
  • NM_000243.2:c.549G>A
  • NM_001198536.1:c.277+1792G>A
  • NP_000234.1:p.Pro183=
  • LRG_190t1:c.549G>A
  • LRG_190:g.7109G>A
  • LRG_190p1:p.Pro183=
  • NC_000016.9:g.3304519C>T
  • p.Pro183Pro
Links:
dbSNP: rs587781035
NCBI 1000 Genomes Browser:
rs587781035
Molecular consequence:
  • NM_001198536.1:c.277+1792G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.2:c.549G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000885686ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Sep 16, 2017)
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, SCV000885686.1

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

Description

The MEFV c.549G>A;p.Pro183Pro (rs587781035) variant has not been described in the medical literature, but is listed in the ClinVar database as benign (Variation ID: 138207). The variant is listed in the Genome Aggregation Database as a rare variant (10/184110 alleles). This is a silent variant, the nucleotide at this position is not well conserved across species, and computational algorithms (SpliceSiteFinder-like, MaxEntScan, NNSplice, GeneSplicer, Human Splicing Finder) predict this variant does not significantly alter splicing. Additionally, this variant is inconsistent with the pathogenic mechanism of familial Mediterranean fever. Although this variant has been described in an individual with ulcerative colitis (see link below), this variant is classified as likely benign. References: Link to MEFV database: http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=1

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

Last Updated: Jun 14, 2021

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