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NM_144997.7(FLCN):c.75G>A (p.Leu25=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Aug 20, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000415620.11
Variation ID:
415620
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.75G>A (p.Leu25=)

Allele ID
402305
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17228063 (GRCh38) GRCh38 UCSC
17: 17131377 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325:g.14126G>A
LRG_325t1:c.75G>A
NC_000017.10:g.17131377C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:17228062:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (T)

Allele frequency
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD), exomes 0.00057
Exome Aggregation Consortium (ExAC) 0.00057
Links
ClinGen: CA8416526
dbSNP: rs200350612
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 11, 2020 RCV000756172.7
Benign 2 criteria provided, multiple submitters, no conflicts Nov 30, 2020 RCV001081390.3
Likely benign 1 criteria provided, single submitter Jun 9, 2015 RCV000573433.1
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV001124933.1
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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
(Sep 06, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000883898.1
Submitted: (Oct 10, 2018)
Evidence details
Likely benign
(Jun 09, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000673435.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Benign
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Invitae
Accession: SCV000560340.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001280861.1
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)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Pneumothorax, primary spontaneous
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001283944.1
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)
Likely benign
(Jun 11, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001802849.1
Submitted: (Aug 20, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200350612...

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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 11, 2021