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NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jun 26, 2018)
Last evaluated:
Jul 7, 2017
Accession:
VCV000253231.2
Variation ID:
253231
Description:
2bp indel
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NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)

Allele ID
247673
Variant type
Indel
Variant length
2 bp
Cytogenetic location
17p11.2
Genomic location
17: 17222647-17222648 (GRCh38) GRCh38 UCSC
17: 17125961-17125962 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325t1:c.632_633delAGinsC
LRG_325:g.19541_19542delinsC
NC_000017.10:g.17125961_17125962delinsG
... more HGVS
Protein change
E229fs, E211fs
Other names
-
Canonical SPDI
NC_000017.11:17222646:CT:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10586271
OMIM: 607273.0003
dbSNP: rs879255661
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, single submitter Jul 18, 2016 RCV000239710.2
Pathogenic 1 criteria provided, single submitter Jul 7, 2017 RCV000657236.2
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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: SCV000298052.1
Submitted: (Aug 10, 2016)
Comment:
Clinical Testing
Evidence details
Pathogenic
(Jul 07, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000778963.1
Submitted: (Jun 26, 2018)
Evidence details
Comment:
This combined deletion and insertion is denoted FLCN c.632_633delAGinsC at the cDNA level and p.Glu211AlafsX12 (E211AfsX12) at the protein level. The normal sequence, with the … (more)
Pathogenic
(Sep 01, 2009)
no assertion criteria provided
Method: literature only
BIRT-HOGG-DUBE SYNDROME
Allele origin: germline
OMIM
Accession: SCV000023690.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

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
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. Wei MH Human mutation 2009 PMID: 19562744
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome. Nickerson ML Cancer cell 2002 PMID: 12204536

Text-mined citations for rs879255661...

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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