NM_144997.7(FLCN):c.1253T>C (p.Leu418Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 15, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000493637.1

Allele description [Variation Report for NM_144997.7(FLCN):c.1253T>C (p.Leu418Pro)]

NM_144997.7(FLCN):c.1253T>C (p.Leu418Pro)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1253T>C (p.Leu418Pro)
HGVS:
  • NC_000017.11:g.17216427A>G
  • NG_008001.2:g.25762T>C
  • NM_001353229.2:c.1307T>C
  • NM_001353230.2:c.1253T>C
  • NM_001353231.2:c.1253T>C
  • NM_144997.7:c.1253T>CMANE SELECT
  • NP_001340158.1:p.Leu436Pro
  • NP_001340159.1:p.Leu418Pro
  • NP_001340160.1:p.Leu418Pro
  • NP_659434.2:p.Leu418Pro
  • LRG_325t1:c.1253T>C
  • LRG_325:g.25762T>C
  • NC_000017.10:g.17119741A>G
  • NM_144997.5:c.1253T>C
  • p.[Leu418Pro]
Protein change:
L418P
Links:
dbSNP: rs879255674
NCBI 1000 Genomes Browser:
rs879255674
Molecular consequence:
  • NM_001353229.2:c.1307T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.1253T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.1253T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.1253T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000582854GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 15, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582854.3

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

Description

The L418P variant in the FLCN gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L418P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether L418P is a pathogenic variant or a rare benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024