NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Dec 17, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000216486.1

Allele description [Variation Report for NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)]

NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)

Gene:
FIG4:FIG4 phosphoinositide 5-phosphatase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del)
HGVS:
  • NC_000006.12:g.109792638AGA[2]
  • NG_007977.1:g.106418AGA[2]
  • NM_014845.6:c.2433AGA[2]MANE SELECT
  • NP_055660.1:p.Glu813del
  • LRG_241t1:c.2433_2435AGA[2]
  • LRG_241:g.106418AGA[2]
  • NC_000006.11:g.110113841AGA[2]
  • NC_000006.12:g.109792638_109792640AGA[2]
  • NM_014845.5(FIG4):c.2433_2435AGA[2]
  • NM_014845.5:c.2439_2441delAGA
  • p.Glu813del
Protein change:
E813del
Links:
dbSNP: rs876661144
NCBI 1000 Genomes Browser:
rs876661144
Molecular consequence:
  • NM_014845.6:c.2433AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000279661GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 17, 2015)
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, SCV000279661.9

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

Description

The c.2439_2441delAGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2439_2441delAGA variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The c.2439_2441delAGA variant results in an in-frame deletion of a single Glutamic acid residue, denoted p.E813del. However, this deletion occurs at a position that is not conserved. Therefore, 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: May 28, 2021

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