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NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 23, 2024
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:
RCV000564803.5

Allele description [Variation Report for NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)]

NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)
HGVS:
  • NC_000017.11:g.17217161G>A
  • NG_008001.2:g.25028C>T
  • NM_001353229.2:c.1138C>T
  • NM_001353230.2:c.1084C>T
  • NM_001353231.2:c.1084C>T
  • NM_144997.7:c.1084C>TMANE SELECT
  • NP_001340158.1:p.Arg380Cys
  • NP_001340159.1:p.Arg362Cys
  • NP_001340160.1:p.Arg362Cys
  • NP_659434.2:p.Arg362Cys
  • LRG_325t1:c.1084C>T
  • LRG_325:g.25028C>T
  • NC_000017.10:g.17120475G>A
  • NM_144997.5:c.1084C>T
  • NM_144997.6:c.1084C>T
Protein change:
R362C
Links:
dbSNP: rs557336321
NCBI 1000 Genomes Browser:
rs557336321
Molecular consequence:
  • NM_001353229.2:c.1138C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.1084C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000673422Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Feb 23, 2024) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER.

Hum Mutat. 2011 Aug;32(8):921-9. doi: 10.1002/humu.21519. Epub 2011 Jul 12.

PubMed [citation]
PMID:
21538689

Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Chen B, Zhang G, Li X, Ren C, Wang Y, Li K, Mok H, Cao L, Wen L, Jia M, Li C, Guo L, Wei G, Lin J, Li Y, Zhang Y, Han-Zhang H, Liu J, Lizaso A, Liao N.

Aging (Albany NY). 2020 Feb 24;12(4):3140-3155. doi: 10.18632/aging.102783. Epub 2020 Feb 24.

PubMed [citation]
PMID:
32091409
PMCID:
PMC7066887
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000673422.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024