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NM_144997.7(FLCN):c.1697T>C (p.Met566Thr) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 5, 2020
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:
RCV001812438.13

Allele description [Variation Report for NM_144997.7(FLCN):c.1697T>C (p.Met566Thr)]

NM_144997.7(FLCN):c.1697T>C (p.Met566Thr)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.1697T>C (p.Met566Thr)
HGVS:
  • NC_000017.11:g.17213698A>G
  • NG_008001.2:g.28491T>C
  • NM_001353229.2:c.1751T>C
  • NM_001353230.2:c.1697T>C
  • NM_001353231.2:c.1697T>C
  • NM_144997.7:c.1697T>CMANE SELECT
  • NP_001340158.1:p.Met584Thr
  • NP_001340159.1:p.Met566Thr
  • NP_001340160.1:p.Met566Thr
  • NP_659434.2:p.Met566Thr
  • LRG_325t1:c.1697T>C
  • LRG_325:g.28491T>C
  • NC_000017.10:g.17117012A>G
  • NM_144997.5:c.1697T>C
Protein change:
M566T
Links:
dbSNP: rs756302545
NCBI 1000 Genomes Browser:
rs756302545
Molecular consequence:
  • NM_001353229.2:c.1751T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.1697T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.1697T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.1697T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001471942ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(May 5, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001471942.1

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

Description

The FLCN c.1697T>C; p.Met566Thr variant (rs756302545), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on a single chromosome (1/31402 alleles) in the Genome Aggregation Database. The methionine at codon 566 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Met566Thr variant is uncertain at this time.

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

Last Updated: Oct 26, 2024