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NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 10, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003478287.1

Allele description [Variation Report for NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)]

NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)
HGVS:
  • NC_000017.11:g.17216394_17216395dup
  • NG_008001.2:g.25795_25796dup
  • NM_001353229.2:c.1340_1341dup
  • NM_001353230.2:c.1286_1287dup
  • NM_001353231.2:c.1286_1287dup
  • NM_144997.6:c.1286_1287dup
  • NM_144997.7:c.1286_1287dupMANE SELECT
  • NP_001340158.1:p.Val448fs
  • NP_001340159.1:p.Val430fs
  • NP_001340160.1:p.Val430fs
  • NP_659434.2:p.Val430fs
  • LRG_325t1:c.1286_1287dup
  • LRG_325:g.25795_25796dup
  • NC_000017.10:g.17119706_17119707insGT
  • NC_000017.10:g.17119708_17119709dup
  • NM_144997.5:c.1286_1287dupAC
Protein change:
V430fs
Links:
dbSNP: rs1555607640
NCBI 1000 Genomes Browser:
rs1555607640
Molecular consequence:
  • NM_001353229.2:c.1340_1341dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.1286_1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.1286_1287dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.1286_1287dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004218923Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Mar 10, 2023) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004218923.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This frameshift variant alters the translational reading frame of the FLCN mRNA and causes the premature termination of FLCN protein synthesis. The variant has not been reported in individuals with FLCN-related diseases in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025