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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001181326	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (Mar 11, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24728327, 28944238, 30548481 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001181326

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(Mar 11, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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