GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
CDKN2A P11PAAGSSMEPlikely pathogenicdominant

Reported in ClinVar ( by GeneDx as causing “Hereditary cancer-predisposing syndrome”. No further information is provided, it’s unclear what evidence GeneDx had that led to reporting this effect. Similar variants typically have a dominant effect. Other variants in CDKN2A are implicated in causing hereditary melanoma. This variant doesn’t appear in ExAC’s allele frequency data, which could mean it’s quite rare. (On the other hand, it might not be present for purely technical reasons.)

CDKN2A R24Pinsufficiently evaluated pathogenicunknown

(81 web hits)

CDKN2A M53Iinsufficiently evaluated pathogenicunknown

(155 web hits)

CDKN2A S56Iinsufficiently evaluated pathogenicunknown

(7 web hits)

CDKN2A V59Ginsufficiently evaluated pathogenicunknown

(24 web hits)

CDKN2A G89Dinsufficiently evaluated pathogenicunknown

(18 web hits)

CDKN2A A94Einsufficiently evaluated pathogenicunknown
CDKN2A G101Winsufficiently evaluated pathogenicunknown

(345 web hits)

CDKN2A G122Rinsufficiently evaluated pathogenicunknown

(3 web hits)

CDKN2A V126Dinsufficiently evaluated pathogenicunknown

(91 web hits)

CDKN2A A127Sinsufficiently evaluated not reviewed, f=0.005unknown var-GS19700-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CDKN2A A148Tinsufficiently evaluated not reviewed, f=0.021unknown var-GS20509-1100-36-ASM
CDKN2A R232Xinsufficiently evaluated pathogenicunknown
CDKN2A G259Sinsufficiently evaluated pathogenicunknown
CDKN2AIP A163Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
CDKN2AIP A242Delinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
CDKN2AIP M256Iinsufficiently evaluated none, f=0.005unknown var-GS19017-1100-36-ASM
CDKN2AIP C516Winsufficiently evaluated not reviewedunknown
Page: 1 2
Total results: 18

Gene search

"GENE" or "GENE A123C":

Log in