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NM_144997.7(FLCN):c.1723_1729delinsCCACAGC (p.Ser575_Ser577delinsProGlnPro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 29, 2023
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:
RCV004524818.1

Allele description [Variation Report for NM_144997.7(FLCN):c.1723_1729delinsCCACAGC (p.Ser575_Ser577delinsProGlnPro)]

NM_144997.7(FLCN):c.1723_1729delinsCCACAGC (p.Ser575_Ser577delinsProGlnPro)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1723_1729delinsCCACAGC (p.Ser575_Ser577delinsProGlnPro)
HGVS:
  • NC_000017.11:g.17213666_17213672delinsGCTGTGG
  • NG_008001.2:g.28517_28523delinsCCACAGC
  • NM_001353229.2:c.1777_1783delinsCCACAGC
  • NM_001353230.2:c.1723_1729delinsCCACAGC
  • NM_001353231.2:c.1723_1729delinsCCACAGC
  • NM_144997.7:c.1723_1729delinsCCACAGCMANE SELECT
  • NP_001340158.1:p.Ser593_Ser595delinsProGlnPro
  • NP_001340159.1:p.Ser575_Ser577delinsProGlnPro
  • NP_001340160.1:p.Ser575_Ser577delinsProGlnPro
  • NP_659434.2:p.Ser575_Ser577delinsProGlnPro
  • NP_659434.2:p.Ser575_Ser577delinsProGlnPro
  • LRG_325t1:c.1723_1729delTCGGAGTinsCCACAGC
  • LRG_325:g.28517_28523delinsCCACAGC
  • LRG_325p1:p.Ser575_Ser577delinsProGlnPro
  • NC_000017.10:g.17116980_17116986delinsGCTGTGG
  • NM_144997.5:c.1723_1729delTCGGAGTinsCCACAGC
Molecular consequence:
  • NM_001353229.2:c.1777_1783delinsCCACAGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.1723_1729delinsCCACAGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.1723_1729delinsCCACAGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.1723_1729delinsCCACAGC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005030767Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 29, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005030767.1

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

Description

The c.1723_1729delTCGGAGTinsCCACAGC variant (also known as p.S575_S577delinsPQP), located in coding exon 11 of the FLCN gene, results from an in-frame deletion of TCGGAGT and insertion of CCACAGC at nucleotide positions 1723 to 1729. This results in the substitution of proline, glutamine, and proline for the serine, glutamic acid, and serine residues at codons 575 to 577. These amino acid positions are not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024