NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3]) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000598725.1

Allele description [Variation Report for NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])]

NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])

Gene:
MEFV:MEFV innate immuity regulator, pyrin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])
HGVS:
  • NC_000016.10:g.3254679TTCCCCTCG[3]
  • NG_007871.1:g.6934AGGGGAACG[3]
  • NM_000243.3:c.374AGGGGAACG[3]MANE SELECT
  • NM_001198536.2:c.277+1617AGGGGAACG[3]
  • NP_000234.1:p.125EGN[3]
  • LRG_190t1:c.383_391dup
  • LRG_190:g.6934AGGGGAACG[3]
  • NC_000016.9:g.3304676_3304677insCGTTCCCCT
  • NC_000016.9:g.3304679TTCCCCTCG[3]
  • NM_000243.1:c.382_390dup
  • NM_000243.2:c.383_391dup
  • NM_000243.2:c.383_391dupAGGGGAACG
Links:
dbSNP: rs104895121
NCBI 1000 Genomes Browser:
rs104895121
Molecular consequence:
  • NM_000243.3:c.374AGGGGAACG[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001198536.2:c.277+1617AGGGGAACG[3] - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000710216GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000710216.1

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

Description

The c.383_391dupAGGGGAACG variant has been reported previously in the Infevers database. The variant is observed in 1/9714 (0.01%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The variant results in an in-frame duplication of three amino acids that are not conserved across species. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Aug 27, 2021

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