mutation vs polymorphism and classification

Question 1

what is a mutation

Answer 1

a disease causing alteration that can be inherited (germline) or that has occured after meiosis (somatic)

Question 2

what is a polymorphism

Answer 2

alteration that is either without effect or advantageous and can be inherited

Question 3

which changes are hard to distinguish between mutation and polymorphism

Answer 3

missense

Question 4

how can you use functional information to determine whether something is a mutation or polymorphism

Answer 4

does a carry out a function that will be detrimental to if affected eg ATP binding

Question 5

how can you use structural info to determine whether something is a mutation or a polymorphism

Answer 5

does the change affect the structure

Question 6

how do you use clinical info to decide between mutation and polymorphism

Answer 6

does the change associate with the symptoms

Question 7

genes can be spliced differently in different tissues so you need

Answer 7

knowledge of gene and how it is spliced in different tissue

Question 8

what does a variant classification of 1 mean

Answer 8

benign
high population frequency
not linked to patient phenotype
certain its a polymorphism

Question 9

what does a variant classification of 2 mean

Answer 9

likely benign
not in a functional domain or likely to impact structure
few/no pathogenic mutation in region

Question 10

what does a variant classification of 3 mean

Answer 10

unknown significance
conflicting predictions from in silico tools
no frequency data or literature

Question 11

what does a variant classification of 4 mean

Answer 11

likely pathogenic
low population freq
mutations in region have been identified before
pathogenic in silico predictions
disease specific literature

Question 12

what does a variant classification of 5 mean

Answer 12

pathogenic
segregates with disease
functional study
all evidence in agreement
absolutely certain its pathogenic