NM_144997.7(FLCN):c.1150_1160del (p.Val384fs) AND not provided

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Oct 28, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV003480498.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)]

NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)

Other names:

p.Val384Phefs*2

HGVS:

NC_000017.11:g.17217086_17217096del
NG_008001.2:g.25094_25104del
NM_001353229.2:c.1204_1214del
NM_001353230.2:c.1150_1160del
NM_001353231.2:c.1150_1160del
NM_144997.7:c.1150_1160delMANE SELECT
NP_001340158.1:p.Val402fs
NP_001340159.1:p.Val384fs
NP_001340160.1:p.Val384fs
NP_659434.2:p.Val384Phefs
NP_659434.2:p.Val384fs
LRG_325t1:c.1149_1159del
LRG_325:g.25094_25104del
LRG_325p1:p.Val384Phefs
NC_000017.10:g.17120400_17120410del
NM_144997.5:c.1149_1159delCGTCCAGTCAG
NM_144997.6:c.1150_1160del

Protein change:

V384fs

Links:

dbSNP: rs2544172290

NCBI 1000 Genomes Browser:

rs2544172290

Molecular consequence:

NM_001353229.2:c.1204_1214del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353230.2:c.1150_1160del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001353231.2:c.1150_1160del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_144997.7:c.1150_1160del - 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
SCV004226909	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 7, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 35477461, 25741868
SCV005623363	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	pathogenic (Oct 28, 2024)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 35477461, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004226909

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 7, 2023)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV005623363

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

pathogenic
(Oct 28, 2024)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.

Ray A, Chattopadhyay E, Singh R, Ghosh S, Bera A, Sarma M, Munot M, Desai U, Rajan S, Prabhudesai P, Prakash AK, Roy Chowdhury S, Bhowmick N, Dhar R, Udwadia ZF, Dey A, Mitra S, Joshi JM, Maitra A, Roy B.

Orphanet J Rare Dis. 2022 Apr 27;17(1):176. doi: 10.1186/s13023-022-02326-5.

PubMed [citation]

PMID:: 35477461
PMCID:: PMC9044636

See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV004226909.1

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

Description

PM2, PVS1

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV005623363.1

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

Description

The FLCN c.1150_1160del (p.Val384Phefs*2) variant alters the translational reading frame of the FLCN mRNA and causes the premature termination of FLCN protein synthesis. This variant has been reported in the published literature in an individual with Birt-Hogg-Dube (BHD) syndrome (PMID: 35477461 (2022)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Aug 3, 2025

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