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NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) AND Birt-Hogg-Dube syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 12, 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:
RCV004019578.1

Allele description [Variation Report for NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)]

NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)
HGVS:
  • NC_000017.11:g.17213798G>A
  • NG_008001.2:g.28391C>T
  • NM_001353229.2:c.1651C>T
  • NM_001353230.2:c.1597C>T
  • NM_001353231.2:c.1597C>T
  • NM_144997.6:c.1597C>T
  • NM_144997.7:c.1597C>TMANE SELECT
  • NP_001340158.1:p.Gln551Ter
  • NP_001340159.1:p.Gln533Ter
  • NP_001340160.1:p.Gln533Ter
  • NP_659434.2:p.Gln533Ter
  • LRG_325t1:c.1597C>T
  • LRG_325:g.28391C>T
  • LRG_325p1:p.Gln533*
  • NC_000017.10:g.17117112G>A
  • NM_144997.5:c.1597C>T
  • NP_659434.2:p.Gln533*
Protein change:
Q533*
Links:
dbSNP: rs398124532
NCBI 1000 Genomes Browser:
rs398124532
Molecular consequence:
  • NM_001353229.2:c.1651C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353230.2:c.1597C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353231.2:c.1597C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_144997.7:c.1597C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Birt-Hogg-Dube syndrome 1 (BHD1)
Synonyms:
FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS
Identifiers:
MONDO: MONDO:0800445; MedGen: CN375946; OMIM: 135150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004930819Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Dec 12, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Myriad Genetics, Inc., SCV004930819.1

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

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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

Last Updated: Sep 29, 2024