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NM_144997.7(FLCN):c.1539-16_1539-12del

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 13, 2021)
Last evaluated:
Apr 15, 2021
Accession:
VCV000096479.3
Variation ID:
96479
Description:
5bp microsatellite
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NM_144997.7(FLCN):c.1539-16_1539-12del

Allele ID
102373
Variant type
Microsatellite
Variant length
5 bp
Cytogenetic location
17p11.2
Genomic location
17: 17213868-17213872 (GRCh38) GRCh38 UCSC
17: 17117182-17117186 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325t1:c.1539-16_1539-12del
NC_000017.10:g.17117184_17117188AAACA[1]
NC_000017.11:g.17213870_17213874AAACA[1]
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:17213867:CAAAACAAAACA:CAAAACA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA224162
dbSNP: rs398124531
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Apr 15, 2021 RCV000082631.6
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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
Uncertain significance
(Aug 22, 2012)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000114673.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Apr 15, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001783461.1
Submitted: (Aug 13, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports a deleterious effect on splicing; Observed in individuals with … (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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FLCN - - - -

Text-mined citations for rs398124531...

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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 23, 2021