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NM_144997.7(FLCN):c.1155G>T (p.Gln385His)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000409383.6
Variation ID:
409383
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.1155G>T (p.Gln385His)

Allele ID
401557
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17217090 (GRCh38) GRCh38 UCSC
17: 17120404 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_325:g.25099G>T
NC_000017.10:g.17120404C>A
NC_000017.11:g.17217090C>A
... more HGVS
Protein change
Q385H, Q403H
Other names
-
Canonical SPDI
NC_000017.11:17217089:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00007
The Genome Aggregation Database (gnomAD) 0.00048
Exome Aggregation Consortium (ExAC) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00031
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Links
ClinGen: CA8416130
dbSNP: rs141250189
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 Dec 1, 2020 RCV000473687.6
Likely benign 1 criteria provided, single submitter Mar 1, 2018 RCV000570178.2
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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
Likely benign
(Mar 01, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000673417.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Other strong data supporting benign classification
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Multiple fibrofolliculomas
Allele origin: germline
Invitae
Accession: SCV000549445.6
Submitted: (Jan 07, 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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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 rs141250189...

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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 May 23, 2021