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 4/17 Dx age 45
5/17 - Lap left hemi
5 x 4 x 1 cm
low grade
T3 N2b M1a
Stage IV A
lymph nodes: 9 of 54
8/17 Sub-total colectomy
2nd tumor 5.5 cm width T1 N0
CEA: 1.4 Pre-op; 2.1 2 days Post-op
Lynch no; KRAS wild
Immunohistochemsistry: Normal expression of MLH1, MSH2, MSH6, and PMS2
Tumor DNA variants: MTOR, APC, TP53

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