NM_144997.7(FLCN):c.873_875del (p.Asp291_Leu292delinsGlu) AND Birt-Hogg-Dube syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 27, 2020
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:: RCV001367000.3

Allele description [Variation Report for NM_144997.7(FLCN):c.873_875del (p.Asp291_Leu292delinsGlu)]

NM_144997.7(FLCN):c.873_875del (p.Asp291_Leu292delinsGlu)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.873_875del (p.Asp291_Leu292delinsGlu)

HGVS:

NC_000017.11:g.17219206_17219208del
NG_008001.2:g.22981_22983del
NM_001353229.2:c.927_929del
NM_001353230.2:c.873_875del
NM_001353231.2:c.873_875del
NM_144997.7:c.873_875delMANE SELECT
NP_001340158.1:p.Asp309_Leu310delinsGlu
NP_001340159.1:p.Asp291_Leu292delinsGlu
NP_001340160.1:p.Asp291_Leu292delinsGlu
NP_659434.2:p.Asp291_Leu292delinsGlu
LRG_325:g.22981_22983del
NC_000017.10:g.17122520_17122522del

Links:

dbSNP: rs2144898536

NCBI 1000 Genomes Browser:

rs2144898536

Molecular consequence:

NM_001353229.2:c.927_929del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001353230.2:c.873_875del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001353231.2:c.873_875del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_144997.7:c.873_875del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Birt-Hogg-Dube syndrome
Synonyms:: BHD syndrome; Birt Hogg Dubé syndrome
Identifiers:: MONDO: MONDO:0800444; MedGen: C0346010; Orphanet: 122; OMIM: PS135150

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001563329	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 27, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001563329

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 27, 2020)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV001563329.3

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

Description

This variant has not been reported in the literature in individuals with FLCN-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (ExAC no frequency). This variant, c.873_875del, results in the deletion of 2 amino acids and insertion of 1 amino acid in the FLCN protein (p.Asp291_Leu292delinsGlu), but otherwise preserves the integrity of the reading frame.

#	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		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

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