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NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 30, 2020)
Last evaluated:
May 6, 2019
Accession:
VCV000823091.2
Variation ID:
823091
Description:
single nucleotide variant
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NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)

Allele ID
813068
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17p11.2
Genomic location
17: 17228047 (GRCh38) GRCh38 UCSC
17: 17131361 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.17131361G>A
NC_000017.11:g.17228047G>A
NM_144997.7:c.91C>T MANE Select NP_659434.2:p.Gln31Ter nonsense
... more HGVS
Protein change
Q31*
Other names
-
Canonical SPDI
NC_000017.11:17228046:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1597618162
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 6, 2019 RCV001018999.1
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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
Likely pathogenic
(May 06, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001180300.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Q31* variant (also known as c.91C>T), located in coding exon 1 of the FLCN gene, results from a C to T substitution at nucleotide … (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 rs1597618162...

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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 Jan 09, 2021