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NM_144997.7(FLCN):c.186C>T (p.Ser62=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Nov 3, 2021)
Last evaluated:
Jul 9, 2019
Accession:
VCV000415616.4
Variation ID:
415616
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.186C>T (p.Ser62=)

Allele ID
401584
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17227952 (GRCh38) GRCh38 UCSC
17: 17131266 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325:g.14237C>T
LRG_325t1:c.186C>T
NC_000017.10:g.17131266G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:17227951:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16615124
dbSNP: rs1060504593
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Oct 29, 2016 RCV001395736.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 9, 2019 RCV000458479.3
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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
Likely benign
(Oct 31, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000560335.3
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Oct 29, 2016)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Invitae
Accession: SCV001597451.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jul 09, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV002004968.1
Submitted: (Nov 03, 2021)
Evidence details
Comment:
Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which … (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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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 rs1060504593...

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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