GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PALB2 S136Rinsufficiently evaluated not reviewedunknown
PALB2 P210Linsufficiently evaluated none, f=0.023unknown var-GS18504-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
PALB2 N241Dinsufficiently evaluated not reviewed, f=0.002unknown
PALB2 I309Vinsufficiently evaluated none, f=0.010unknown var-GS19700-1100-36-ASM
var-GS19129-1100-36-ASM
PALB2 L337Sinsufficiently evaluated none, f=0.015unknown

(2 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS000006909
var-GS10851-1100-36-ASM
var-GS19649-1100-36-ASM
PALB2 T361Ainsufficiently evaluated not reviewedunknown
PALB2 D498Yinsufficiently evaluated noneunknown
PALB2 Y551Xinsufficiently evaluated pathogenicunknown

(2 web hits)

PALB2 Q559Rinsufficiently evaluated none, f=0.135unknown

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS21767-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS19129-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
PALB2 P661Linsufficiently evaluated noneunknown
PALB2 E672Quncertain benign, f=0.024unknown

Probably benign.

(2 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS21767-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
PALB2 P864Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
PALB2 V932Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_F02 from PGP sample 95788191
PALB2 Q988Xinsufficiently evaluated pathogenicunknown

(6 web hits)

PALB2 G998Einsufficiently evaluated not reviewed, f=0.019unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS21767-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
PALB2 Y1183Xinsufficiently evaluated pathogenicunknown

A biallelic mutation in the partner and localizer of BRCA2 (PALB2) gene has severe phenotypic consequences in regards to childhood cancer susceptibility. PALB2 is a protein that associates with BRCA2 and participates in DNA damage response by promoting the association of BRCA2 with nuclear structures. The Y1183X variant located in exon 14 of the gene results in the truncation of the protein and subsequent loss of binding affinity to BRCA2. The disruption of this protein-protein interaction most likely leads to a decreased ability to monitor DNA damage, resulting in increased susceptibility to cancer. This variation is familial.

(10 web hits)

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Total results: 16

Gene search

"GENE" or "GENE A123C":

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