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NM_144997.7(FLCN):c.1293CTC[1] (p.Ser433del) AND Birt-Hogg-Dube syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 31, 2023
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:
RCV002042220.7

Allele description [Variation Report for NM_144997.7(FLCN):c.1293CTC[1] (p.Ser433del)]

NM_144997.7(FLCN):c.1293CTC[1] (p.Ser433del)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1293CTC[1] (p.Ser433del)
HGVS:
  • NC_000017.11:g.17216382GAG[1]
  • NG_008001.2:g.25802CTC[1]
  • NM_001353229.2:c.1347CTC[1]
  • NM_001353230.2:c.1293CTC[1]
  • NM_001353231.2:c.1293CTC[1]
  • NM_144997.5:c.1296_1298delCTC
  • NM_144997.7:c.1293CTC[1]MANE SELECT
  • NP_001340158.1:p.Ser451del
  • NP_001340159.1:p.Ser433del
  • NP_001340160.1:p.Ser433del
  • NP_659434.2:p.Ser433del
  • LRG_325t1:c.1296_1298del
  • LRG_325:g.25802CTC[1]
  • NC_000017.10:g.17119696GAG[1]
  • NC_000017.10:g.17119696_17119698del
  • NM_144997.7:c.1296_1298delMANE SELECT
Protein change:
S433del
Links:
dbSNP: rs763354508
NCBI 1000 Genomes Browser:
rs763354508
Molecular consequence:
  • NM_001353229.2:c.1347CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001353230.2:c.1293CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001353231.2:c.1293CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_144997.7:c.1293CTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002107987Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 12, 2022) 		germlineclinical testing

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

SCV004195323Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 31, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

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

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002107987.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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 has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is present in population databases (rs763354508, gnomAD 0.003%). This variant, c.1296_1298del, results in the deletion of 1 amino acid(s) of the FLCN protein (p.Ser433del), but otherwise preserves the integrity of the reading frame.

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

From Baylor Genetics, SCV004195323.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024