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NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 7, 2020
Accession:
VCV000096469.7
Variation ID:
96469
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter)

Allele ID
102363
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17217128 (GRCh38) GRCh38 UCSC
17: 17120442 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.11:g.17217128G>A
NC_000017.10:g.17120442G>A
NM_144997.7:c.1117C>T MANE Select NP_659434.2:p.Gln373Ter nonsense
... more HGVS
Protein change
Q373*, Q391*
Other names
-
Canonical SPDI
NC_000017.11:17217127:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA193155
dbSNP: rs398124524
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Mar 27, 2018 RCV000082619.6
Pathogenic 1 criteria provided, single submitter Mar 28, 2019 RCV000165348.2
Pathogenic 1 criteria provided, single submitter Feb 7, 2020 RCV000635546.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FLCN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1159 1275

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 08, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000114661.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Mar 27, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321660.8
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted FLCN c.1117C>T at the cDNA level and p.Gln373Ter (Q373X) at the protein level. The substitution creates a nonsense variant, which changes … (more)
Pathogenic
(Feb 07, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Invitae
Accession: SCV000756962.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Gln373*) in the FLCN gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Mar 28, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000216072.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
​<span style="background-color:initial">The p.Q373* pathogenic mutation (also known as c.1117C>T), located in coding exon 7 of the FLCN gene, results from a C to T substitution … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Birt-Hogg-Dubé syndrome: report of a new mutation. Rehman HU Canadian respiratory journal 2012 PMID: 22679611
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Schmidt LS American journal of human genetics 2005 PMID: 15852235
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FLCN - - - -

Text-mined citations for rs398124524...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 10, 2021