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NM_144997.7(FLCN):c.502C>T (p.Arg168Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 26, 2020
Accession:
VCV000134425.4
Variation ID:
134425
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.502C>T (p.Arg168Cys)

Allele ID
138164
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17224038 (GRCh38) GRCh38 UCSC
17: 17127352 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325:g.18151C>T
LRG_325t1:c.502C>T
NC_000017.10:g.17127352G>A
... more HGVS
Protein change
R168C, R186C
Other names
-
Canonical SPDI
NC_000017.11:17224037:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00001
Links
ClinGen: CA159770
dbSNP: rs587778367
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 26, 2020 RCV000817735.3
not provided 1 no assertion provided Sep 19, 2013 RCV000121102.1
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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
1160 1277

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000958314.3
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces arginine with cysteine at codon 168 of the FLCN protein (p.Arg168Cys). The arginine residue is highly conserved and there is a … (more)
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Affected status: unknown
Allele origin: germline
ITMI
Accession: SCV000085270.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Publications:
PubMed (1)
PubMed: 24728327

Observation 1:

Ethnicity/Population group: Whole_cohort

Observation 2:

Ethnicity/Population group: African

Observation 3:

Ethnicity/Population group: African_European

Observation 4:

Ethnicity/Population group: Central_Asian

Observation 5:

Ethnicity/Population group: East_Asian

Observation 6:

Ethnicity/Population group: European

Observation 7:

Ethnicity/Population group: Hispanic

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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327

Text-mined citations for rs587778367...

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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