Heterozygous variant c.2593C>T on APC gene

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Heterozygous variant c.2593C>T on APC gene

Postby mpbser » Tue Aug 08, 2017 2:02 pm

My husband's Invitae Common Hereditary Cancers Panel came back with all normal/negative results except for the following --

Gene: APC
Variant: c.2593C>t (p.Pro865Ser)
Zygosity: heterozygous
Variant classification: uncertain significance

It looks like there are conflicting classifications of this variant depending on the lab that does the testing:


I really could not understand what the geneticist was talking about when she explained what a variant classification of uncertain significance means. I was able to understand a little more by reading https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/

However, I'm at a 3rd grade level when it comes to anything dealing with genetics. Does anyone have a simple explanation of what this finding means?

Thanks in advance!
Wife of 4/12/17 Dx age 45
5/19/17 - Lap left hemi
Tumor size: 5 x 4 x 1 cm
low grade
T3 N2b M1a
Stage IV A
lymph nodes: 9 of 54
CEA: 1.4 Pre-op; 2.1 2 days Post-op
Tumor extension: Invasive through muscularis propria into pericolic fat
Proximal margin: >14 cm Distal margin: >14 cm Mesenteric margin: 3 cm
Lymphovascular invasion present
Lynch - unlikely; KRAS wild
Immunohistochemsistry: Normal expression of MLH1, MSH2, MSH6, and PMS2

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