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NM_144997.7(FLCN):c.875T>G (p.Leu292Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 13, 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:
RCV000492726.4

Allele description [Variation Report for NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)]

NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)
HGVS:
  • NC_000017.11:g.17219206A>C
  • NG_008001.2:g.22983T>G
  • NM_001353229.2:c.929T>G
  • NM_001353230.2:c.875T>G
  • NM_001353231.2:c.875T>G
  • NM_144997.7:c.875T>GMANE SELECT
  • NP_001340158.1:p.Leu310Ter
  • NP_001340159.1:p.Leu292Ter
  • NP_001340160.1:p.Leu292Ter
  • NP_659434.2:p.Leu292Ter
  • LRG_325t1:c.875T>G
  • LRG_325:g.22983T>G
  • NC_000017.10:g.17122520A>C
  • NM_144997.5:c.875T>G
  • p.[Leu292*]
Protein change:
L292*
Links:
dbSNP: rs879255668
NCBI 1000 Genomes Browser:
rs879255668
Molecular consequence:
  • NM_001353229.2:c.929T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353230.2:c.875T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353231.2:c.875T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_144997.7:c.875T>G - nonsense - [Sequence Ontology: SO:0001587]

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000580721Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Mar 13, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000580721.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.L292* pathogenic mutation (also known as c.875T>G), located in coding exon 6 of the FLCN gene, results from a T to G substitution at nucleotide position 875. This changes the amino acid from a leucine to a stop codon within coding exon 6. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Mar 30, 2024