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The BRCA1 c.5266dupC variant describes an insertion of a C in an exon near the 3’...

The BRCA1 c.5266dupC variant describes an insertion of a C in an exon near the 3’ end of the gene. What effect is this likely to have on the protein sequence?

it is a frameshift variant, changing all the amino acids encoded downstream of the site of insertion

it is a missense variant, replacing just one amino acid with another at the site of insertion

it is a nonsense variant, creating a stop codon at the site of insertion

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Answer #1

The correct option is (A), it is a frameshift variant, changing all the amino acids encoded downstream of the site of insertion

It is because if there is an insertion of C at the 3'end , then it clearly indicates that due to this insertion, the reading frame of all the amino acids downstream of insertion will change because before the addition, the reading frame was something else and when this C has been added, so due to addition of an extra base, the reading frame will change due to which the encoded amino acids will also change downstream of the insertion.

Hope it helps, Good luck !!!!!

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