NM_144997.7(FLCN):c.1285C>G (p.His429Asp) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 7, 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:: RCV000571150.4

Allele description [Variation Report for NM_144997.7(FLCN):c.1285C>G (p.His429Asp)]

NM_144997.7(FLCN):c.1285C>G (p.His429Asp)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_144997.7(FLCN):c.1285C>G (p.His429Asp)

HGVS:

NC_000017.11:g.17216395G>C
NG_008001.2:g.25794C>G
NM_001353229.2:c.1339C>G
NM_001353230.2:c.1285C>G
NM_001353231.2:c.1285C>G
NM_144997.7:c.1285C>GMANE SELECT
NP_001340158.1:p.His447Asp
NP_001340159.1:p.His429Asp
NP_001340160.1:p.His429Asp
NP_659434.2:p.His429Asp
LRG_325t1:c.1285C>G
LRG_325:g.25794C>G
NC_000017.10:g.17119709G>C
NM_144997.5:c.1285C>G

Protein change:

H429D

Links:

dbSNP: rs375082054

NCBI 1000 Genomes Browser:

rs375082054

Molecular consequence:

NM_001353229.2:c.1339C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353230.2:c.1285C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353231.2:c.1285C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_144997.7:c.1285C>G - 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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homologue of retroviral POL genes [Cladosporium fulvum T-1 virus]
homologue of retroviral POL genes [Cladosporium fulvum T-1 virus]
Gene ID:40526545

Gene
dop-2 Dopamine receptor 2 [Caenorhabditis elegans]
dop-2 Dopamine receptor 2 [Caenorhabditis elegans]
Gene ID:179347

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000673450	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 7, 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

SCV000673450

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 7, 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

Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

Ren HZ, Zhu CC, Yang C, Chen SL, Xie J, Hou YY, Xu ZF, Wang DJ, Mu DK, Ma DH, Wang Y, Ye MH, Ye ZR, Chen BF, Wang CG, Lin J, Qiao D, Yi L.

Clin Genet. 2008 Aug;74(2):178-83. doi: 10.1111/j.1399-0004.2008.01030.x. Epub 2008 May 25.

PubMed [citation]

PMID:: 18505456

Details of each submission

From Ambry Genetics, SCV000673450.6

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

Description

The p.H429D variant (also known as c.1285C>G), located in coding exon 8 of the FLCN gene, results from a C to G substitution at nucleotide position 1285. The histidine at codon 429 is replaced by aspartic acid, an amino acid with similar properties. A similar alteration at this position, p.H429Y, was reported in a Chinese cohort of 102 individuals with primary spontaneous pneumothorax in one individual (Ren HZ et al. Clin. Genet., 2008 Aug;74:178-83). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: Jun 17, 2024

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