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NM_144997.7(FLCN):c.97G>C (p.Asp33His) AND Hereditary cancer-predisposing syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 16, 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:
RCV001019769.4

Allele description [Variation Report for NM_144997.7(FLCN):c.97G>C (p.Asp33His)]

NM_144997.7(FLCN):c.97G>C (p.Asp33His)

Gene:
FLCN:folliculin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144997.7(FLCN):c.97G>C (p.Asp33His)
HGVS:
  • NC_000017.11:g.17228041C>G
  • NG_008001.2:g.14148G>C
  • NM_001353229.2:c.97G>C
  • NM_001353230.2:c.97G>C
  • NM_001353231.2:c.97G>C
  • NM_144606.7:c.97G>C
  • NM_144997.7:c.97G>CMANE SELECT
  • NP_001340158.1:p.Asp33His
  • NP_001340159.1:p.Asp33His
  • NP_001340160.1:p.Asp33His
  • NP_653207.1:p.Asp33His
  • NP_659434.2:p.Asp33His
  • LRG_325t1:c.97G>C
  • LRG_325:g.14148G>C
  • NC_000017.10:g.17131355C>G
  • NM_144997.5:c.97G>C
Protein change:
D33H
Links:
dbSNP: rs386833401
NCBI 1000 Genomes Browser:
rs386833401
Molecular consequence:
  • NM_001353229.2:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353230.2:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353231.2:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144606.7:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_144997.7:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001181171Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Dec 16, 2022) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

Rossing M, Albrechtsen A, Skytte AB, Jensen UB, Ousager LB, Gerdes AM, Nielsen FC, Hansen TV.

J Hum Genet. 2017 Feb;62(2):151-157. doi: 10.1038/jhg.2016.118. Epub 2016 Oct 13.

PubMed [citation]
PMID:
27734835

Details of each submission

From Ambry Genetics, SCV001181171.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024