NM_144997.7(FLCN):c.1463C>T (p.Ala488Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Sep 12, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000571344.2

Allele description [Variation Report for NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)]

NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1463C>T (p.Ala488Val)
HGVS:
  • NC_000017.11:g.17215060G>A
  • NG_008001.2:g.27129C>T
  • NM_001353229.2:c.1517C>T
  • NM_001353230.2:c.1463C>T
  • NM_001353231.2:c.1463C>T
  • NM_144997.7:c.1463C>TMANE SELECT
  • NP_001340158.1:p.Ala506Val
  • NP_001340159.1:p.Ala488Val
  • NP_001340160.1:p.Ala488Val
  • NP_659434.2:p.Ala488Val
  • LRG_325t1:c.1463C>T
  • LRG_325:g.27129C>T
  • NC_000017.10:g.17118374G>A
  • NM_144997.5:c.1463C>T
Protein change:
A488V
Links:
dbSNP: rs200660337
NCBI 1000 Genomes Browser:
rs200660337
Molecular consequence:
  • NM_001353229.2:c.1517C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.1463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.1463C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.1463C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000673426Ambry Geneticscriteria provided, single submitter
Likely benign
(Sep 12, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000673426.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2021

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