NM_144997.7(FLCN):c.1647G>A (p.Leu549=) AND Multiple fibrofolliculomas

Clinical significance:Likely benign (Last evaluated: Sep 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001394554.1

Allele description [Variation Report for NM_144997.7(FLCN):c.1647G>A (p.Leu549=)]

NM_144997.7(FLCN):c.1647G>A (p.Leu549=)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1647G>A (p.Leu549=)
HGVS:
  • NC_000017.11:g.17213748C>T
  • NG_008001.2:g.28441G>A
  • NM_001353229.2:c.1701G>A
  • NM_001353230.2:c.1647G>A
  • NM_001353231.2:c.1647G>A
  • NM_144997.7:c.1647G>AMANE SELECT
  • NP_001340158.1:p.Leu567=
  • NP_001340159.1:p.Leu549=
  • NP_001340160.1:p.Leu549=
  • NP_659434.2:p.Leu549=
  • LRG_325t1:c.1647G>A
  • LRG_325:g.28441G>A
  • NC_000017.10:g.17117062C>T
  • NM_144997.5:c.1647G>A
Links:
dbSNP: rs978355107
NCBI 1000 Genomes Browser:
rs978355107
Molecular consequence:
  • NM_001353229.2:c.1701G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353230.2:c.1647G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001353231.2:c.1647G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_144997.7:c.1647G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Multiple fibrofolliculomas (BHD)
Synonyms:
BHD syndrome; Fibrofolliculomas with trichodiscomas and acrochordons; Hornstein-Knickenberg syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007607; MedGen: C0346010; Orphanet: 122; OMIM: 135150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001596243Invitaecriteria provided, single submitter
Likely benign
(Sep 24, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001596243.1

#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: May 19, 2021

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