NM_144997.7(FLCN):c.91C>T (p.Gln31Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely pathogenic (Last evaluated: May 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001018999.1

Allele description [Variation Report for NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)]

NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter)
HGVS:
  • NC_000017.11:g.17228047G>A
  • NG_008001.2:g.14142C>T
  • NM_001353229.2:c.91C>T
  • NM_001353230.2:c.91C>T
  • NM_001353231.2:c.91C>T
  • NM_144606.7:c.91C>T
  • NM_144997.7:c.91C>TMANE SELECT
  • NP_001340158.1:p.Gln31Ter
  • NP_001340159.1:p.Gln31Ter
  • NP_001340160.1:p.Gln31Ter
  • NP_653207.1:p.Gln31Ter
  • NP_659434.2:p.Gln31Ter
  • LRG_325t1:c.91C>T
  • LRG_325:g.14142C>T
  • NC_000017.10:g.17131361G>A
  • NM_144997.5:c.91C>T
Protein change:
Q31*
Links:
dbSNP: rs1597618162
NCBI 1000 Genomes Browser:
rs1597618162
Molecular consequence:
  • NM_001353229.2:c.91C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353230.2:c.91C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353231.2:c.91C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_144606.7:c.91C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_144997.7:c.91C>T - nonsense - [Sequence Ontology: SO:0001587]
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
SCV001180300Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(May 6, 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, SCV001180300.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.Q31* variant (also known as c.91C>T), located in coding exon 1 of the FLCN gene, results from a C to T substitution at nucleotide position 91. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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

Last Updated: Jan 9, 2021

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