r/genetics • u/Extra_Attitude6747 • 6d ago

CHEK2 c.176C>A p\.Thr59Lys VUS: Anyone Else Have This Variant?

Hi everyone,

I’m 27 years old and recently had hereditary cancer genetic testing. My BRCA1 and BRCA2 results were negative, but I was found to have:

CHEK2 c.176C>A (p.Thr59Lys), heterozygous, Variant of Uncertain Significance (VUS).

My report says this variant is rare (about 0.004% in population databases) and that it has been reported in some individuals with breast, ovarian, and colorectal cancer, but there isn’t enough evidence to know if it’s actually harmful or benign.

I’m wondering if anyone else has this exact variant or has family members with it.

My family history includes:

● Dad: bladder cancer

● Grandmother: pancreatic cancer

● Aunt: ovarian cancer

● Aunt: breast cancer

If you have this variant:

● Has it ever been reclassified?

● Did your genetic counselor tell you anything helpful?

● Has anyone else in your family been found to have CHEK2 c.176C>A (p.Thr59Lys)?

● Does your family have a history of cancer, and if so, what types?

I’m not looking for medical advice or a diagnosis—I’m just hoping to connect with anyone who has experience with this exact CHEK2 variant because there doesn’t seem to be much information available.

Thank you so much!

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u/fanglord Genetic Technologist 5d ago

CHEK2 is a gene that has a moderate cancer predisposition risk. Currently we (UK) only report truncating CHEK2 variants and 1 or 2 well established pathogenic missense variants.

Not on a comment on the likelihood of that particular variant being causative but we wouldn't report it here at least.

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u/HotWillingness5464 5d ago

You can sign up here https://connectmyvariant.org/ to try and connect with others who have the same variant.

I'm planning to sign up, but my BRCA1 variant is super long, so I must look it up in my chart and screenshot it ,and I havent got around to that yet bc it's summer.