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NM_144997.7(FLCN):c.941C>A (p.Pro314Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 29, 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:
RCV002449469.2

Allele description [Variation Report for NM_144997.7(FLCN):c.941C>A (p.Pro314Gln)]

NM_144997.7(FLCN):c.941C>A (p.Pro314Gln)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.941C>A (p.Pro314Gln)
HGVS:
  • NC_000017.11:g.17219140G>T
  • NG_008001.2:g.23049C>A
  • NM_001353229.2:c.995C>A
  • NM_001353230.2:c.941C>A
  • NM_001353231.2:c.941C>A
  • NM_144997.7:c.941C>AMANE SELECT
  • NP_001340158.1:p.Pro332Gln
  • NP_001340159.1:p.Pro314Gln
  • NP_001340160.1:p.Pro314Gln
  • NP_659434.2:p.Pro314Gln
  • LRG_325t1:c.941C>A
  • LRG_325:g.23049C>A
  • NC_000017.10:g.17122454G>T
  • NM_144997.5:c.941C>A
Protein change:
P314Q
Links:
dbSNP: rs747467294
NCBI 1000 Genomes Browser:
rs747467294
Molecular consequence:
  • NM_001353229.2:c.995C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.941C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.941C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.941C>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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002682908Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 29, 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, SCV002682908.2

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

Description

This alteration is classified as likely 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