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NM_144997.7(FLCN):c.927dup (p.Ala310fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 26, 2020
Accession:
VCV000253241.5
Variation ID:
253241
Description:
1bp duplication
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NM_144997.7(FLCN):c.927dup (p.Ala310fs)

Allele ID
247663
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17219153-17219154 (GRCh38) GRCh38 UCSC
17: 17122467-17122468 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325t1:c.927dup
LRG_325:g.23035dup
NM_144997.5:c.927dup
... more HGVS
Protein change
A310fs, A328fs
Other names
-
Canonical SPDI
NC_000017.11:17219153:TTT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10586262
dbSNP: rs879255669
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 Jan 26, 2020 RCV000239698.3
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 24, 2018 RCV000266138.2
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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
(Jul 18, 2016)
criteria provided, single submitter
()
Method: clinical testing
Birt-Hogg-Dube Syndrome
Allele origin: germline
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000298066.1
Submitted: (Aug 10, 2016)
Comment:
Clinical Testing
Evidence details
Pathogenic
(Aug 11, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000329352.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.927dupA variant in the FLCN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This … (more)
Pathogenic
(Jan 26, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Invitae
Accession: SCV001203985.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Ala310Serfs*80) in the FLCN gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jan 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital
Accession: SCV001449704.1
Submitted: (Nov 26, 2020)
Evidence details

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
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

Text-mined citations for rs879255669...

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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 Nov 27, 2021