NM_144997.7(FLCN):c.927dup (p.Ala310fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 24, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000266138.2

Allele description [Variation Report for NM_144997.7(FLCN):c.927dup (p.Ala310fs)]

NM_144997.7(FLCN):c.927dup (p.Ala310fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.927dup (p.Ala310fs)
HGVS:
  • NC_000017.11:g.17219156dup
  • NG_008001.2:g.23035dup
  • NM_001353229.2:c.981dup
  • NM_001353230.2:c.927dup
  • NM_001353231.2:c.927dup
  • NM_144997.7:c.927dupMANE SELECT
  • NP_001340158.1:p.Ala328fs
  • NP_001340159.1:p.Ala310fs
  • NP_001340160.1:p.Ala310fs
  • NP_659434.2:p.Ala310fs
  • LRG_325t1:c.927dup
  • LRG_325:g.23035dup
  • NC_000017.10:g.17122467_17122468insT
  • NC_000017.10:g.17122470dup
  • NM_144997.5:c.927dup
  • NM_144997.5:c.927dupA
  • p.[Ala310Serfs*80]
Protein change:
A310fs
Links:
dbSNP: rs879255669
NCBI 1000 Genomes Browser:
rs879255669
Molecular consequence:
  • NM_001353229.2:c.981dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.927dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.927dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.927dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000329352GeneDxcriteria provided, single submitter
Pathogenic
(Aug 11, 2016)
germlineclinical testing

Citation Link,

SCV001449704Clinical Genetics Karolinska University Hospital,Karolinska University Hospitalcriteria provided, single submitter
Pathogenic
(Jan 24, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000329352.6

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

Description

The c.927dupA variant in the FLCN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This duplication causes a frameshift starting with codon Alanine 310, changes this amino acid to a Serine residue and creates a premature Stop codon at position 80 of the new reading frame, denoted p.Ala310SerfsX80. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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

From Clinical Genetics Karolinska University Hospital,Karolinska University Hospital, SCV001449704.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 10, 2021

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