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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

Related topics

Related topics

40 relations
AARS, ASP893ASNACADL, LYS333GLN (dbSNP rs2286963)ADIPOR1, 1-BP DEL, 31CADK, HIS324ARG
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Papers overview

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Highly Cited
2018
Highly Cited
2018
Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework
PurposeWe evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant… Expand
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Highly Cited
2008
Highly Cited
2008
The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life.
OBJECTIVE Unclassified variants (UVs, variants of uncertain clinical significance) are found in 13% of all BRCA1/2 mutation… Expand
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2008
2008
Identification of Patients with (Atypical) MUTYH-Associated Polyposis by KRAS2 c.34G > T Prescreening Followed by MUTYH Hotspot Analysis in Formalin-Fixed Paraffin-Embedded Tissue
Purpose: To assess the feasibility of identifying patients with (atypical) MUTYH-associated polyposis (MAP) by KRAS2 c.34G > T… Expand
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Highly Cited
2008
Highly Cited
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… Expand
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Highly Cited
2007
Highly Cited
2007
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
BACKGROUND Heterozygous defects in mismatch-repair (MMR) genes cause hereditary nonpolyposis colorectal cancer (HNPCC). In this… Expand
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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… Expand
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2005
2005
Prognostic impact of BRCA1 pathogenic and BRCA1/BRCA2 unclassified variant mutations in patients with ovarian carcinoma.
BACKGROUND The clinical relevance of BRCA1/2 alterations in ovarian carcinoma patients is debatable. Our aim was to determine… Expand
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2005
2005
DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas… Expand
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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… Expand
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Highly Cited
1995
Highly Cited
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… Expand
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