Palb2 : Ashley’s Original Exon 9 & 10 + More

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IN APRIL 2018 Ashley found out she is PALB2+:  PALB2 hereditary genetic mutation exon 9 and 10 deleted. Through BC Cancer agency and Color dot com. Then cleaned further. Her Dad has it and it’s found in Prague with three related women as well. 99.9% related. Couldn’t find them. 

Brian Shirts updated and Confirmed. 

https://connectmyvariant.org/variants/palb2-c2835-282-31131377del-652951/

PALB2 exon 9 and 10 deleted + 

PALB2 c.2835-282_3113+1377del

Gene:     PALB2

Coding Change (c.) 

c.2835-282_3113+1377del

Protein Change (p.) 

p.Ala946_Trp1038del

ClinVar Name 

NC_000016.10:g.(?_23621352)_(23623140_?) del 

ClinVar Number 

652951

Variant Forum 

https://messageboard.facingourrisk.org/t/palb2-exon-9-10-del-r-2835-3113del-p-ala946-trp1038del/4626

Notes 

There is Czech/Slovak paper where the same mutation is listed with three women from the same family all DX with breast cancer, Granda, Mother, Grand-daughter.

Other Names

Exon 9-10 Deletion 

_____

Email: to confirm from website above

Brian Shirts, MD, PhD
Associate Professor, Department of Laboratory Medicine and Pathology
University of Washington
shirtsb@uw.edu

PALB2 c.2835-282_3113+1377del 

Brian Shirts updated and Confirmed. 

https://connectmyvariant.org/variants/palb2-c2835-282-31131377del-652951/

––––

OLD -October 2021 

coding change (c.)

c.2835-?_3113+?del

protein change (p.)

p.Ala946_Trp1038del

ClinVar Name

NC_000016.10:g.(?_23621352)_(23623140_?)del

ClinVarID

652951

Genomic Coordinates

16:?_23632673-23634461_? (GRCh37)                                                                                                                

Forum Url

https://messageboard.facingourrisk.org/t/palb2-exon-9-10-del-r-2835-3113del-p-ala946-trp1038del/4626    

Notes

There is Czech/Slovak paper where the same mutation is listed with three women from the same family all DX with breast cancer, Grandma, Mother, Grand-daughter.