NM_144997.7(FLCN):c.1203dup (p.Ile402fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 14, 2015
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:: RCV000082623.7

Allele description [Variation Report for NM_144997.7(FLCN):c.1203dup (p.Ile402fs)]

NM_144997.7(FLCN):c.1203dup (p.Ile402fs)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.1203dup (p.Ile402fs)

HGVS:

NC_000017.11:g.17216477dup
NG_008001.2:g.25712dup
NM_001353229.2:c.1257dup
NM_001353230.2:c.1203dup
NM_001353231.2:c.1203dup
NM_144997.7:c.1203dupMANE SELECT
NP_001340158.1:p.Ile420fs
NP_001340159.1:p.Ile402fs
NP_001340160.1:p.Ile402fs
NP_659434.2:p.Ile402fs
LRG_325t1:c.1203dup
LRG_325:g.25712dup
NC_000017.10:g.17119790_17119791insG
NC_000017.10:g.17119791dup
NM_144997.5:c.1203dup
NM_144997.5:c.1203dupC

Protein change:

I402fs

Links:

dbSNP: rs398124526

NCBI 1000 Genomes Browser:

rs398124526

Molecular consequence:

NM_001353229.2:c.1257dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353230.2:c.1203dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353231.2:c.1203dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144997.7:c.1203dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114665	Eurofins Ntd Llc (ga)	no assertion criteria provided	Pathogenic (Feb 28, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000329353	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 14, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000114665

Eurofins Ntd Llc (ga)

no assertion criteria provided

Pathogenic
(Feb 28, 2013)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000329353

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 14, 2015)

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	4	not provided	not provided	236	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]

PMID:: 23757202

Details of each submission

From Eurofins Ntd Llc (ga), SCV000114665.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing (GTR000501362)	PubMed (1)
2	not provided	0	not provided	not provided	clinical testing	PubMed (1)
3	not provided	0	not provided	not provided	clinical testing	PubMed (1)
4	not provided	0	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	236	not provided	not provided	(GTR000501362)	4	not provided	not provided	not provided
2	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
3	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
4	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided

From GeneDx, SCV000329353.5

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

Description

The c.1203dupC variant in the FLCN gene causes a frameshift starting with codon Isoleucine 402, changes this amino acid to a Histidine residue and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Ile402HisfsX54. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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

Last Updated: Mar 30, 2024

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