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Table 4 Low risk variants with MMAF > 0.01, CADD > 10, ODD Ratio > 1.1 in coding transcript shared by all brothers with prostate cancer

From: Unravelling genetic variants of a swedish family with high risk of prostate cancer

Gene

Locationa

Ref/Alt

SNP-id

HGVS transcript

MMAFb

CADDc

Position

Consequence

TET2

chr4:106196829

T/G

rs34402524

NM_001127208.2:

c.5162T > G

0.1234

22

Coding Transcript

Non-synonymous

NOP16

chr5:175811094

C/CAT

rs56989856

NM_001291305.2:

c.546_547insAT

0.1973

22.1

Coding Transcript

Frameshift

PRIM2

chr6:57398226

T/G

rs77436138

NC_000006.11:

g.57437519T > C

0.2653

21.8

Coding Transcript

Non-synonymous

MAFA

chr8:144511953

ATGGTGG /A

rs141816879

NM_201589.3:

c.618_623del

0.0777

17.43

Coding Transcript

Inframe deletion

CACNA1B

chr9:140777299

G/T

rs71238527

NM_000718.3:

c.494G > T

0.1791

24.7

Coding Transcript

Non-synonymous

PSMD13

chr11:247329

C/T

rs28927679

NM_002817.3:

c.449 C > T

0.0106

23.4

Coding Transcript

Non-synonymous

SMPD1

chr11:6412853

G/GC

Na

NM_001318087.1:

c.564dup

0.0170

20.9

Coding Transcript

Frameshift

KRT18

chr12:53342968

C/T

rs76301931

NM_000224.2:

c.11 C > T

0.1759

16.1

Coding Transcript

Non-synonymous

KRT18

chr12:53343318

C/T

Na

NM_000224.2:

c.361 C > T

0.1235

23.3

Coding Transcript

Non-synonymous

KRT18

chr12:53343325

T/A

Na

NM_000224.2:

c.368T > A

0.0658

23.8

Coding Transcript

Non-synonymous

MEF2A

chr15:100252709

CCAGCAG/T

rs72276751

NM_001365203.1:

c.1286_1291del

0.3553

22.2

Coding Transcript

Inframe deletion

IL32

chr16:3119297

C/CG

rs71818662

NM_004221.4:

c.514dup

0.3126

18.43

Coding Transcript

Frameshift

KRT10

chr17:38975307

TGCCGCCGTGGCC/T

Na

NM_000421.3:

c.1468_1479del

0.3077

20.2

Coding Transcript

Inframe deletion

CD3EAP

chr19:45912489

CAAG/C

rs374686338

NM_001983.3:

c.*441_*443del

0.2206

13.39

Coding Transcript

Inframe deletion

  1. a Genomic coordinates were based on GRCh37, b Max minor allele frequency (MMAF) obtained from Genome Aggregation Database (gnomAD), c Combined Annotation Dependent Depletion (CADD) in silico prediction of variants pathogenic effect