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NM_144997.7(FLCN):c.871+16T>A

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Mar 26, 2018)
Last evaluated:
Dec 19, 2017
Accession:
VCV000041860.1
Variation ID:
41860
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.871+16T>A

Allele ID
50299
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17221521 (GRCh38) GRCh38 UCSC
17: 17124835 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325:g.20668T>A
LRG_325t1:c.871+16T>A
NC_000017.10:g.17124835A>T
... more HGVS
Protein change
L296Q
Other names
-
Canonical SPDI
NC_000017.11:17221520:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00146
Trans-Omics for Precision Medicine (TOPMed) 0.00147
Trans-Omics for Precision Medicine (TOPMed) 0.00165
Exome Aggregation Consortium (ExAC) 0.00048
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00154
1000 Genomes Project 0.00300
The Genome Aggregation Database (gnomAD), exomes 0.00047
The Genome Aggregation Database (gnomAD) 0.00159
Links
ClinGen: CA159787
dbSNP: rs116643153
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Dec 19, 2017 RCV000121109.3
Uncertain significance 1 no assertion criteria provided Jul 13, 2012 RCV000034794.1
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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
Likely benign
(Dec 19, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000532527.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
variant of unknown significance
(Jul 13, 2012)
no assertion criteria provided
Method: research
not provided
Allele origin: germline
Biesecker Lab/Clinical Genomics Section,National Institutes of Health
Study: ClinSeq
Accession: SCV000043268.1
Submitted: (Jul 15, 2012)
Evidence details
Publications
PubMed (1)
Comment:
Converted during submission to Uncertain significance.
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000085277.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

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
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Johnston JJ American journal of human genetics 2012 PMID: 22703879

Text-mined citations for rs116643153...

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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