NM_144997.7(FLCN):c.1498del (p.Val500fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 21, 2019
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:: RCV001011903.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1498del (p.Val500fs)]

NM_144997.7(FLCN):c.1498del (p.Val500fs)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.1498del (p.Val500fs)

HGVS:

NC_000017.11:g.17215026del
NG_008001.2:g.27164del
NM_001353229.2:c.1552del
NM_001353230.2:c.1498del
NM_001353231.2:c.1498del
NM_144997.7:c.1498delMANE SELECT
NP_001340158.1:p.Val518fs
NP_001340159.1:p.Val500fs
NP_001340160.1:p.Val500fs
NP_659434.2:p.Val500fs
LRG_325t1:c.1498del
LRG_325:g.27164del
NC_000017.10:g.17118340del
NM_144997.5:c.1498delG

Protein change:

V500fs

Links:

dbSNP: rs1597578776

NCBI 1000 Genomes Browser:

rs1597578776

Molecular consequence:

NM_001353229.2:c.1552del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353230.2:c.1498del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353231.2:c.1498del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144997.7:c.1498del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001172285	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Likely pathogenic (Jun 21, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001172285

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Likely pathogenic
(Jun 21, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001172285.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

The c.1498delG variant, located in coding exon 10 of the FLCN gene, results from a deletion of one nucleotide at nucleotide position 1498, causing a translational frameshift with a predicted alternate stop codon (p.V500Wfs*13). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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