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NM_144997.7(FLCN):c.992C>T (p.Ser331Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Mar 11, 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:
RCV001019912.3

Allele description [Variation Report for NM_144997.7(FLCN):c.992C>T (p.Ser331Phe)]

NM_144997.7(FLCN):c.992C>T (p.Ser331Phe)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.992C>T (p.Ser331Phe)
HGVS:
  • NC_000017.11:g.17219089G>A
  • NG_008001.2:g.23100C>T
  • NM_001353229.2:c.1046C>T
  • NM_001353230.2:c.992C>T
  • NM_001353231.2:c.992C>T
  • NM_144997.7:c.992C>TMANE SELECT
  • NP_001340158.1:p.Ser349Phe
  • NP_001340159.1:p.Ser331Phe
  • NP_001340160.1:p.Ser331Phe
  • NP_659434.2:p.Ser331Phe
  • LRG_325t1:c.992C>T
  • LRG_325:g.23100C>T
  • NC_000017.10:g.17122403G>A
  • NM_144997.5:c.992C>T
  • NM_144997.6:c.992C>T
Protein change:
S331F
Links:
dbSNP: rs202215080
NCBI 1000 Genomes Browser:
rs202215080
Molecular consequence:
  • NM_001353229.2:c.1046C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.992C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.992C>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
SCV001181326Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Mar 11, 2024) 		germlineclinical testing

PubMed (3)
[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

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]
PMID:
24728327
PMCID:
PMC3984285

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, et al.

Mol Genet Genomic Med. 2017 Sep;5(5):553-569. doi: 10.1002/mgg3.317.

PubMed [citation]
PMID:
28944238
PMCID:
PMC5606870
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV001181326.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

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