NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000996177.5

Allele description [Variation Report for NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)]

NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)

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.800C>T (p.Thr267Ile)
HGVS:
  • NC_000016.10:g.3254268G>A
  • NG_007871.1:g.7360C>T
  • NM_000243.3:c.800C>TMANE SELECT
  • NM_001198536.2:c.277+2043C>T
  • NP_000234.1:p.Thr267Ile
  • NP_000234.1:p.Thr267Ile
  • LRG_190t1:c.800C>T
  • LRG_190:g.7360C>T
  • LRG_190p1:p.Thr267Ile
  • NC_000016.9:g.3304268G>A
  • NM_000243.1:c.800C>T
  • NM_000243.2:c.800C>T
  • O15553:p.Thr267Ile
Protein change:
T267I; THR267ILE
Links:
UniProtKB: O15553#VAR_009054; OMIM: 608107.0007; dbSNP: rs104895081
NCBI 1000 Genomes Browser:
rs104895081
Molecular consequence:
  • NM_001198536.2:c.277+2043C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000243.3:c.800C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001150755CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Nov 1, 2020)
germlineclinical testing

Citation Link,

SCV001931647Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely pathogenicgermlineclinical testing

SCV001963806Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely pathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001150755.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001931647.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001963806.2

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

Last Updated: Dec 4, 2021

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