Interpreting a Variant - Lecture Notes

These flashcards cover key concepts from the lecture on interpreting genetic variants, their classifications, and implications for health.

Variant

Changes to the sequence of nucleotides compared to a reference sequence.

Central Dogma

The process by which DNA is transcribed to RNA and then translated into protein.

Gene

A segment of DNA that encodes a protein product.

Protein

A complex organic compound composed of hundreds or thousands of amino acids.

Nucleotide

The basic building blocks of DNA and RNA, consisting of a sugar, a phosphate group, and a nitrogenous base.

ACMG Guidelines

Standards developed by the American College of Medical Genetics for interpreting sequence variants.

Pathogenic Variant

A genetic alteration that is believed to cause disease.

Benign Variant

A genetic alteration that is not associated with disease.

VUS (Variant of Uncertain Significance)

A genetic variant whose effect on disease risk is unknown.

Exon

A coding segment of a gene that is included in the final mRNA product.

Intron

A non-coding segment of a gene that is spliced out during mRNA processing.

Donor/Acceptor Sequences

Specific nucleotide sequences at the junctions between introns and exons important for splicing.

Germline Variant

A genetic alteration that is inherited and present in the germ cells.

Somatic Variant

A genetic alteration that occurs in cells other than germ cells and is not inherited.

Sequencing Technology

Methods used to determine the sequence of nucleotides in DNA or RNA.

Missense Mutation

A type of mutation that results in a single amino acid change in the protein.

Nonsense Mutation

A mutation that introduces a premature stop codon in the protein sequence.

Splicing

The process of removing introns and joining exons in the formation of mRNA.

Allele Frequency

The proportion of a specific allele among all allele copies in a population.

Computational Predictions

Tools and algorithms used to predict the functional effects of genetic variants.

Alternative Splicing

A process by which different combinations of exons are joined together to create multiple protein variants from a single gene.

Loss of Function

A mutation that results in reduced or abolished protein function.

Gain of Function

A mutation that results in a novel or enhanced function of a protein.