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

Clinical significance:Benign/Likely benign (Last evaluated: Oct 16, 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:
RCV000126741.2

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000170253GeneDxcriteria provided, single submitter
Benign
(Dec 14, 2013)
germlineclinical testing

Citation Link,

SCV001442695Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Oct 16, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000170253.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001442695.1

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

Last Updated: Jun 14, 2021

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