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NM_144997.7(FLCN):c.872-13A>G

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 18, 2021)
Last evaluated:
Jul 20, 2020
Accession:
VCV000262549.6
Variation ID:
262549
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.872-13A>G

Allele ID
256084
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17219222 (GRCh38) GRCh38 UCSC
17: 17122536 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325t1:c.872-13A>G
LRG_325:g.22967A>G
NC_000017.10:g.17122536T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:17219221:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01797 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00414
The Genome Aggregation Database (gnomAD) 0.01513
Exome Aggregation Consortium (ExAC) 0.00502
Trans-Omics for Precision Medicine (TOPMed) 0.01655
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01745
1000 Genomes Project 0.01797
Trans-Omics for Precision Medicine (TOPMed) 0.01603
The Genome Aggregation Database (gnomAD) 0.01651
Links
ClinGen: CA8416205
dbSNP: rs114970273
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Feb 1, 2017 RCV000253343.1
Benign 2 criteria provided, multiple submitters, no conflicts May 4, 2016 RCV000588320.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000316382.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000389518.2
Benign 1 criteria provided, single submitter Jul 20, 2020 RCV001287126.2
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000316060.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(May 04, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699935.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The FLCN variant, c.872-13A>G is located at a non-conserved intronic position, not widely known to affect splicing, with 4/5 in silico programs via … (more)
Benign
(Feb 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000700474.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Pneumothorax, primary spontaneous
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000401006.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000401007.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jul 20, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001473775.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001892445.1
Submitted: (Sep 18, 2021)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FLCN - - - -

Text-mined citations for rs114970273...

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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