NM_000243.2(MEFV):c.2292G>T (p.Gly764=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Aug 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000429125.5

Allele description [Variation Report for NM_000243.2(MEFV):c.2292G>T (p.Gly764=)]

NM_000243.2(MEFV):c.2292G>T (p.Gly764=)

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.2292G>T (p.Gly764=)
HGVS:
  • NC_000016.10:g.3243195C>A
  • NG_007871.1:g.18433G>T
  • NM_000243.2:c.2292G>T
  • NM_001198536.1:c.*496G>T
  • NP_000234.1:p.Gly764=
  • LRG_190t1:c.2292G>T
  • LRG_190:g.18433G>T
  • LRG_190p1:p.Gly764=
  • NC_000016.9:g.3293195C>A
Links:
dbSNP: rs142352887
NCBI 1000 Genomes Browser:
rs142352887
Molecular consequence:
  • NM_001198536.1:c.*496G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000243.2:c.2292G>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000513594GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 11, 2017)
germlineclinical testing

Citation Link,

SCV001501589CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Aug 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000513594.4

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

Description

The c.2292 G>T variant in the MEFV gene has been reported previously in one individual withfamilial Mediterranean fever (Jeske et al., 2013). This variant was not observed at any significantfrequency in approximately 6500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In-silico splice prediction models predict that c.2292 G>T may create a cryptic splice donor site inexon 10 that could supplant the natural splice donor site. However, in the absence of RNA/functionalstudies, the actual effect of c.2292 G>T in this individual is unknown. We interpret c.2292 G>T as avariant of uncertain significance.

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001501589.2

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

Last Updated: Jul 10, 2021

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