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NM_144997.7(FLCN):c.190G>A (p.Ala64Thr) AND Birt-Hogg-Dube syndrome 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 9, 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:
RCV004789206.1

Allele description [Variation Report for NM_144997.7(FLCN):c.190G>A (p.Ala64Thr)]

NM_144997.7(FLCN):c.190G>A (p.Ala64Thr)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.190G>A (p.Ala64Thr)
HGVS:
  • NC_000017.11:g.17227948C>T
  • NG_008001.2:g.14241G>A
  • NM_001353229.2:c.190G>A
  • NM_001353230.2:c.190G>A
  • NM_001353231.2:c.190G>A
  • NM_144606.7:c.190G>A
  • NM_144997.7:c.190G>AMANE SELECT
  • NP_001340158.1:p.Ala64Thr
  • NP_001340159.1:p.Ala64Thr
  • NP_001340160.1:p.Ala64Thr
  • NP_653207.1:p.Ala64Thr
  • NP_659434.2:p.Ala64Thr
  • LRG_325t1:c.190G>A
  • LRG_325:g.14241G>A
  • NC_000017.10:g.17131262C>T
  • NM_144997.5:c.190G>A
Protein change:
A64T
Links:
dbSNP: rs778587763
NCBI 1000 Genomes Browser:
rs778587763
Molecular consequence:
  • NM_001353229.2:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144606.7:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.190G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005406343Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely benign
(Aug 9, 2024) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV005406343.1

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

Description

This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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

Last Updated: Nov 24, 2024