Both SNVs and SVs are always pathogenic mutations

SNVs involve large DNA segments, while SVs change only a single nucleotide

SVs occur only in coding regions, while SNVs occur in noncoding regions

SNVs alter a single base pair in the genome, while SVs involve larger changes such as insertions, deletions, inversions, or duplications

Homozygous CC

This information is insufficient to determine the genotype.

Heterozygous AC

Homozygous AA

The variant should be treated as pathogenic, and cancer risk-reducing surgery should be recommended

The variant should be automatically reclassified to likely benign if it is rare in the general population

The variant should be reported, but clinical decisions should be based on personal and family history until further evidence clarifies its significance

The variant should be ignored, as it is most likely benign and worth no further attention

An SNP describes changes in protein-coding regions, while SNVs occur in noncoding regions only

An SNP is a single-nucleotide change that occurs rarely in the population, while SNVs are frequent

An SNV is always rare, while an SNP is always pathogenic

An SNV refers to any single-nucleotide change, while an SNP - is an SNV occurring in at least 1% of the population

Removal of a nucleotide

No change in amino acids

Change in a single amino acid

Introduction of a stop codon

ZNF143 is a housekeeping gene, with broad expression across most tissues

ZNF143 is only expressed in immune tissues, like whole blood and spleen

ZNF143 is tissue-specific, expressed only in brain tissues

ZNF143 shows high expression only in reproductive organs, like the ovary and testis

A sequence signalling the ribosome to start protein synthesis

A sequence of DNA that codes for amino acids and remains in the mature mRNA

A sequence of DNA that is removed during RNA processing and does not code for protein

A regulatory region where RNA polymerase binds to start transcription

DNA sequence that decreases transcription by binding repressor proteins

DNA sequence that enhances transcription when bound by transcription factors

Mutation in a promoter region that prevents transcription initiation

A protein that blocks translation at the ribosome

All BRCA2 transcripts shown have identical exon–intron structures

BRCA2 contains multiple exons and introns, with exons represented as thick blocks and introns as connecting lines

BRCA2 is a single continuous coding sequence without introns

BRCA2 is transcribed from the negative (reverse) DNA strand

C. A variant, which impact on health is currently unclear due to insufficient evidence

A variant, found only in laboratory artifacts and not in human populations

A variant, confirmed to cause disease in carriers

A variant, known to be benign with no effect on health