What does HGVS mean?

HGVS: a sequence where, compared to a reference sequence, a segment of one or more nucleotides (the repeat unit) is present several times, one after the other. silent. a variant in a DNA sequence that does not change the amino acid sequence of the encoded protein (based on MESH).

How do you read a mutation name?

To describe a single nucleotide substitution based on a coding DNA reference sequence using the standard nomenclature, one must describe it with 1) the GenBank accession number and version number of the coding DNA (or cDNA) reference sequence used, followed by 2) a colon “:”; 3) prefix “c.”; 4) the nucleotide number; 5 …

What is a sequence variant?

A “sequence variant” is a surrogate term covering any unintentional amino acid substitutions, omissions, or insertions during protein biosynthesis. These errors usually occur at low levels and affect certain amino acids in multiple positions along the protein sequence, and can be both codon-dependent and independent.

What prefix is used to denote that a variant is mapped to protein sequence?

“p.” for a protein reference sequence.

What does C mean in gene?

Variants described on the DNA level are mostly reported in relation to a specific gene based on a so called “coding DNA reference sequence”. When a coding DNA reference sequence is used, the description of the variant starts with “c.” (in the example c.

Is a 7.5 tonne lorry a HGV?

Vehicles that are over 3.5 tonnes are referred to as ‘HGV’.

What does P stand for in genetics?

Reviewed on 3/29/2021. p in population genetics: The frequency of the more common of two different alternative (allelic) versions of a gene. (The frequency of less common allele is q).

What does a G mean in genetics?

ACGT is an acronym for the four types of bases found in a DNA molecule: adenine (A), cytosine (C), guanine (G), and thymine (T). A DNA molecule consists of two strands wound around each other, with each strand held together by bonds between the bases.

What is a variant of a gene called?

An allele is a variant form of a gene. Some genes have a variety of different forms, which are located at the same position, or genetic locus, on a chromosome. Humans are called diploid organisms because they have two alleles at each genetic locus, with one allele inherited from each parent.

What are coding regions of DNA called?

Coding DNA sequences are separated by long regions of DNA called introns that have no apparent function. Coding DNA is also known as an exon.

What does NC mean in NCBI?

reference assembly
From The NCBI Handbook, ch18: (via this answer) NC – “Complete genomic molecule, usually reference assembly”

What does P stand for in DNA?

The P and S on the backbone of the helix represent the phosphate and the pentose sugar which together with the base make up the nucleotides. At right above is a depiction of a section of the sugar-phosphate backbone of DNA which conforms into one strand of the double helix.

How is the HGVs nomenclature used in DNA?

HGVS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences and serves as an international standard. When using the recommendations please cite: HGVS recommendations for the description of sequence variants – 2016 update, Den Dunnen et al. 2016, Hum.Mutat. 37:564-569.

Where can I find the HGVs sequence description?

It has been replaced by a new version at http://www.HGVS.org/varnomen . These pages serve as archival copy only. HGVS/HVP/HUGO Sequence Variant Description Working Group (SVD-WG)

What does HGVs stand for in medical terminology?

To prevent confusion regarding its meaning a standard has been developed for this language, the so called HGVS nomenclature. The standard is used world-wide, especially in human health and diagnostics. This page will try to explain the standard, briefly and in simple terms.

Who is the author of the HGVs nomenclature?

HGVS-nomenclature is authorised by the Human Genome Variation Society (HGVS), the Human Variome Project (HVP) and the HUman Genome Organization (HUGO).