NM_014845.6(FIG4):c.2547-5T>G AND none provided

Clinical significance:Uncertain significance (Last evaluated: Nov 20, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284788.2

Allele description [Variation Report for NM_014845.6(FIG4):c.2547-5T>G]

NM_014845.6(FIG4):c.2547-5T>G

Gene:
FIG4:FIG4 phosphoinositide 5-phosphatase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_014845.6(FIG4):c.2547-5T>G
HGVS:
  • NC_000006.12:g.109825083T>G
  • NG_007977.1:g.138863T>G
  • NM_014845.5:c.2547-5T>G
  • NM_014845.6:c.2547-5T>GMANE SELECT
  • LRG_241t1:c.2547-5T>G
  • LRG_241:g.138863T>G
  • NC_000006.11:g.110146286T>G
Links:
dbSNP: rs200267243
NCBI 1000 Genomes Browser:
rs200267243
Molecular consequence:
  • NM_014845.5:c.2547-5T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014845.6:c.2547-5T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001470809ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Nov 20, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001470809.1

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

Description

The FIG4 c.2547-5T>G variant (rs200267243), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 355047). This variant is found in the general population with an allele frequency of 0.034% (97/281,940 alleles) in the Genome Aggregation Database. This is an intronic variant in a weakly conserved nucleotide, but computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.

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

Last Updated: Nov 20, 2021

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