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NM_144997.7(FLCN):c.250-2A>G AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2024
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:
RCV005003458.1

Allele description [Variation Report for NM_144997.7(FLCN):c.250-2A>G]

NM_144997.7(FLCN):c.250-2A>G

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.250-2A>G
HGVS:
  • NC_000017.11:g.17226324T>C
  • NG_008001.2:g.15865A>G
  • NM_001353229.2:c.250-2A>G
  • NM_001353230.2:c.250-2A>G
  • NM_001353231.2:c.250-2A>G
  • NM_144606.7:c.250-2A>G
  • NM_144997.7:c.250-2A>GMANE SELECT
  • LRG_325t1:c.250-2A>G
  • LRG_325:g.15865A>G
  • NC_000017.10:g.17129638T>C
  • NM_144997.5:c.250-2A>G
  • NM_144997.6:c.250-2A>G
Nucleotide change:
IVS4AS, A-G, -2
Links:
OMIM: 607273.0014; dbSNP: rs398124533
NCBI 1000 Genomes Browser:
rs398124533
Molecular consequence:
  • NM_001353229.2:c.250-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001353230.2:c.250-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001353231.2:c.250-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_144606.7:c.250-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_144997.7:c.250-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Familial spontaneous pneumothorax (PSP)
Identifiers:
MONDO: MONDO:0008259; MedGen: C1868193; Orphanet: 2903; OMIM: 173600
Name:
Nonpapillary renal cell carcinoma
Identifiers:
MONDO: MONDO:0007763; MedGen: CN074294; Orphanet: 422526; OMIM: 144700
Name:
Colorectal cancer
Synonyms:
Colorectal cancer, somatic; Malignant Colorectal Neoplasm
Identifiers:
MONDO: MONDO:0005575; MedGen: C0346629; OMIM: 114500
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
SCV002783339Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 1, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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 Fulgent Genetics, Fulgent Genetics, SCV002783339.2

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

Last Updated: Oct 5, 2025