NM_014845.6(FIG4):c.627A>G (p.Leu209=) AND not provided

Clinical significance:Likely benign (Last evaluated: Aug 22, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001591165.3

Allele description [Variation Report for NM_014845.6(FIG4):c.627A>G (p.Leu209=)]

NM_014845.6(FIG4):c.627A>G (p.Leu209=)

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.627A>G (p.Leu209=)
HGVS:
  • NC_000006.12:g.109735279A>G
  • NG_007977.1:g.49059A>G
  • NM_014845.5:c.627A>G
  • NM_014845.6:c.627A>GMANE SELECT
  • NP_055660.1:p.Leu209=
  • NP_055660.1:p.Leu209=
  • LRG_241t1:c.627A>G
  • LRG_241:g.49059A>G
  • LRG_241p1:p.Leu209=
  • NC_000006.11:g.110056482A>G
  • p.Leu209Leu
Links:
dbSNP: rs140111406
NCBI 1000 Genomes Browser:
rs140111406
Molecular consequence:
  • NM_014845.5:c.627A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_014845.6:c.627A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001827092GeneDxcriteria provided, single submitter
Likely benign
(Aug 22, 2019)
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, SCV001827092.1

#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: Nov 27, 2021

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