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Flashcards in Variants Deck (13)
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1
Q

c.487A>G/p.N163D

A

missense variant

2
Q

c.7714-2A>G/IVS11-2A>G

A

splice site variant

3
Q

c.721C>T/p.R241* or p.Arg241Ter or p.R241X

A

nonsense variant

4
Q

c.76_78delACT

A

deletion

5
Q

p.Arg78_Gly79ins23/dup23

A

duplication or insertion

6
Q

c.112_117delinsTG

A

indel

7
Q

p.Thr398Profs*10 or p.Thr398fs or p.Thr398ProfsTer10 or p. T398fsX10

A

frameshift variant

8
Q

Low Impact Variants

A

silent mutations

9
Q

Moderate or Uncertain Impact Variants

A

deletions, insertions, indels, missense mutations, splice site mutations

10
Q

High Impact Variants

A

frameshift mutations, nonsense mutations

11
Q

Variant Interpretation

A
  • takes into account nature of variant, evolutionary conservation, in silico predictors, population frequencies/control databases, literature and disease databases, clinical information and family data
12
Q

Variant Curation

A
  • selecting which variants to report usually in relevant genes/regions, of relevant variant types
  • data filtered to narrow down what variants are clinically important and considers affected tissues in which particular transcripts may be present, frequency of variant, disease mechanism
13
Q

Variant Classification

A
  • follows ACMG guidelines regarding which levels of evidence to apply for pathogenicity or benignness
  • even with criteria, labs can and do apply evidence differently