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NM_144997.7(FLCN):c.33C>A (p.Cys11Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 23, 2021)
Last evaluated:
May 6, 2020
Accession:
VCV000428641.6
Variation ID:
428641
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.33C>A (p.Cys11Ter)

Allele ID
420628
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17228105 (GRCh38) GRCh38 UCSC
17: 17131419 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325t1:c.33C>A
NC_000017.10:g.17131419G>T
NC_000017.11:g.17228105G>T
... more HGVS
Protein change
C11*
Other names
-
Canonical SPDI
NC_000017.11:17228104:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA398535464
dbSNP: rs754616167
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 30, 2019 RCV000492609.2
Pathogenic 1 criteria provided, single submitter May 6, 2020 RCV000578955.2
Pathogenic 1 criteria provided, single submitter Oct 29, 2018 RCV000696880.2
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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
(Oct 29, 2018)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Invitae
Accession: SCV000825460.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Cys11*) in the FLCN gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Mar 30, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000580732.4
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.C11* pathogenic mutation (also known as c.33C>A), located in coding exon 1 of the FLCN gene, results from a C to A substitution at … (more)
Pathogenic
(May 06, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000681052.2
Submitted: (Sep 23, 2021)
Evidence details
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not … (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

Text-mined citations for rs754616167...

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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 Sep 24, 2021