NM_144997.7(FLCN):c.95G>A (p.Gly32Glu) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 3, 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:: RCV001019544.3

Allele description [Variation Report for NM_144997.7(FLCN):c.95G>A (p.Gly32Glu)]

NM_144997.7(FLCN):c.95G>A (p.Gly32Glu)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.95G>A (p.Gly32Glu)

HGVS:

NC_000017.11:g.17228043C>T
NG_008001.2:g.14146G>A
NM_001353229.2:c.95G>A
NM_001353230.2:c.95G>A
NM_001353231.2:c.95G>A
NM_144606.7:c.95G>A
NM_144997.7:c.95G>AMANE SELECT
NP_001340158.1:p.Gly32Glu
NP_001340159.1:p.Gly32Glu
NP_001340160.1:p.Gly32Glu
NP_653207.1:p.Gly32Glu
NP_659434.2:p.Gly32Glu
LRG_325t1:c.95G>A
LRG_325:g.14146G>A
NC_000017.10:g.17131357C>T
NM_144997.5:c.95G>A

Protein change:

G32E

Links:

dbSNP: rs587778366

NCBI 1000 Genomes Browser:

rs587778366

Molecular consequence:

NM_001353229.2:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353230.2:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001353231.2:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_144606.7:c.95G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_144997.7:c.95G>A - 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
SCV001180916	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 3, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001180916

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 3, 2023)

germline

clinical testing

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

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

Details of each submission

From Ambry Genetics, SCV001180916.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The p.G32E variant (also known as c.95G>A), located in coding exon 1 of the FLCN gene, results from a G to A substitution at nucleotide position 95. The glycine at codon 32 is replaced by glutamic acid, an amino acid with similar properties. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS One, 2014 Apr;9:e94554). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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