FAQ

VARIANT OF UNKNOWN SIGNIFICANCE

Known as: Variant of Undetermined Significance, unclassified variant, variant of uncertain significance 
A variation in a genetic sequence whose association with disease risk is unknown.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1984-2018
010203019842018

Papers overview

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2015
2015
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2 negative patients with early onset breast cancer
Purpose:Clinical testing for germ-line variation in multiple cancer susceptibility genes is available using massively parallel… (More)
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2015
2015
UBQLN2 variant of unknown significance in frontotemporal lobar degeneration.
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a disease spectrum. However… (More)
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2012
2012
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
BACKGROUND Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some… (More)
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Highly Cited
2009
Highly Cited
2009
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.
BACKGROUND In women at increased risk for breast and ovarian cancer, the identification of a mutation in breast cancer gene 1… (More)
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2008
2008
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.
PURPOSE Twenty percent of individuals with a strong family and/or personal history of breast and ovarian cancer carry a… (More)
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2007
2007
BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model.
PURPOSE The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using… (More)
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Highly Cited
2006
Highly Cited
2006
Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.
Classification of rare missense variants as neutral or disease causing is a challenge and has important implications for genetic… (More)
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Highly Cited
2003
Highly Cited
2003
BRCA2 germline mutations in familial pancreatic carcinoma.
BACKGROUND Although as many as 10% of pancreatic cancer cases may have an inherited component, familial pancreatic cancer has not… (More)
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1999
1999
CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas.
Mutation analysis of two genes involved in melanoma susceptibility (CDKN2A/p16(INK4a) and CDK4) was undertaken in 131 probands… (More)
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1995
1995
Investigation of the pattern of hepatitis C virus sequence diversity in different geographical regions: implications for virus classification. The International HCV Collaborative Study Group.
Genotypes of hepatitis C virus (HCV) present within 104 samples from HCV-infected individuals from Africa, the Middle East, the… (More)
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