U.S. flag

An official website of the United States government

NM_144997.7(FLCN):c.931_932dup (p.Val312fs) AND Birt-Hogg-Dube syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 26, 2022
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:
RCV002308476.1

Allele description [Variation Report for NM_144997.7(FLCN):c.931_932dup (p.Val312fs)]

NM_144997.7(FLCN):c.931_932dup (p.Val312fs)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.931_932dup (p.Val312fs)
HGVS:
  • NC_000017.11:g.17219151_17219152dup
  • NG_008001.2:g.23039_23040dup
  • NM_001353229.2:c.985_986dup
  • NM_001353230.2:c.931_932dup
  • NM_001353231.2:c.931_932dup
  • NM_144997.7:c.931_932dupMANE SELECT
  • NP_001340158.1:p.Val330fs
  • NP_001340159.1:p.Val312fs
  • NP_001340160.1:p.Val312fs
  • NP_659434.2:p.Val312Leufs
  • NP_659434.2:p.Val312fs
  • LRG_325t1:c.929_930dup
  • LRG_325:g.23039_23040dup
  • LRG_325p1:p.Val312Leufs
  • NC_000017.10:g.17122465_17122466dup
  • NM_144997.5:c.929_930dup
Protein change:
V312fs
Molecular consequence:
  • NM_001353229.2:c.985_986dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353230.2:c.931_932dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001353231.2:c.931_932dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_144997.7:c.931_932dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Birt-Hogg-Dube syndrome
Synonyms:
BHD syndrome; Birt Hogg Dubé syndrome
Identifiers:
MONDO: MONDO:0800444; MedGen: C0346010; Orphanet: 122; OMIM: PS135150

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002586995Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 26, 2022) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen, SCV002586995.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 9, 2024