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NM_144997.7(FLCN):c.1176+31G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 26, 2021)
Last evaluated:
Feb 9, 2017
Accession:
VCV000496848.2
Variation ID:
496848
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.1176+31G>A

Allele ID
488272
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17217038 (GRCh38) GRCh38 UCSC
17: 17120352 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325:g.25151G>A
NC_000017.10:g.17120352C>T
NC_000017.11:g.17217038C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:17217037:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.02117 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.02472
The Genome Aggregation Database (gnomAD) 0.01198
Trans-Omics for Precision Medicine (TOPMed) 0.01441
1000 Genomes Project 0.02117
Exome Aggregation Consortium (ExAC) 0.02423
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01284
Links
ClinGen: CA8416120
dbSNP: rs41340844
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 9, 2017 RCV000592951.1
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001707748.1
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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
1149 1265

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000700405.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001936289.1
Submitted: (Sep 26, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FLCN - - - -

Text-mined citations for rs41340844...

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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 29, 2021