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NM_144997.7(FLCN):c.1596A>G (p.Thr532=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 26, 2020
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:
RCV002398526.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1596A>G (p.Thr532=)]

NM_144997.7(FLCN):c.1596A>G (p.Thr532=)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1596A>G (p.Thr532=)
HGVS:
  • NC_000017.11:g.17213799T>C
  • NG_008001.2:g.28390A>G
  • NM_001353229.2:c.1650A>G
  • NM_001353230.2:c.1596A>G
  • NM_001353231.2:c.1596A>G
  • NM_144997.7:c.1596A>GMANE SELECT
  • NP_001340158.1:p.Thr550=
  • NP_001340159.1:p.Thr532=
  • NP_001340160.1:p.Thr532=
  • NP_659434.2:p.Thr532=
  • NP_659434.2:p.Thr532=
  • LRG_325t1:c.1596A>G
  • LRG_325:g.28390A>G
  • LRG_325p1:p.Thr532=
  • NC_000017.10:g.17117113T>C
  • NM_144997.5:c.1596A>G
Molecular consequence:
  • NM_001353229.2:c.1650A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353230.2:c.1596A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353231.2:c.1596A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144997.7:c.1596A>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV002709741Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 26, 2020) 		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, SCV002709741.2

#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: May 1, 2024