Skip to main content

Table 2 Variants on hereditary breast and ovarian cancer genes shared by the two sequenced family members

From: Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases

Genes

Position

Variant ID

Sequence variation

Frequency (1000 genomes)

Localization

ClinVar

ATM

108137775

rs642496

c.2467−123T > A

0.681909

Intronic

–

108225661

rs664143

c.640+30986T>C

0.628195

Intronic

–

10815,707

rs3218681

c.3403−15_3403−14insA

0.542133

Intronic

Benign

BARD1

215632255

rs2070094

c.1462G>A

0.366214

Exonic

Likely benign

215645464

rs2229571

c.1077G>C

0.459265

Exonic

Likely benign

215674224

rs1048108

c.70C>T

0.33127

Exonic

Likely benign

215632155

rs5031009

c.1568+51A>G

0.366214

Intronic

–

215632126

rs398048293

c.1511+78_1511+79delAA

0.366214

Intronic

–

215634055

rs6704780

c.1315−19G>A

0.365216

Intronic

Benign

21532192

rs5031011

c.1568+14C>T

0.352236

Intronic

Likely benign

215595645

rs16852600

c.1904−413G>A

0.275359

Intronic

–

BLM

No detected variants

BRCA1

No detected variants

BRCA2

32953529

rs4987047

c.8830A>T

0.00898562

Exonic

Benign

BRIP1

No detected variants

CDH1

68857277

rs201760019

c.1754−25C>A

0.000599042

Intronic

–

68857544

rs34939176

c.1981+17_1981+18insA

0.0459265

Intronic

Benign

68868148

rs140240766

c.*746C>A

0.000599042

UTR3

Likely benign

CHEK2

29137944

rs2236142

c.−194C>G

0.560304

Upstream

–

FAM175A

No detected variants

FANCC

9,873957

rs4647534

c.1155−38T>C

0.541334

Intronic

Benign

97873435

rs2404457

c.1329+310C>T

0.411142

UTR3

–

97888730

rs4647512

c.896+81G>A

0.0313498

Intronic

–

FANCM

No detected variants

MAPKAP1

128321827

rs146481224

c.848+85T>A

0.0163738

Intronic

–

42103822

rs1197672

c.328−333C>T

0.239816

Intronic

–

42105918

rs1201689

c.937C>G

0.305112

Exonic

–

42111933

rs890497

c.2499+85G>A

0.0884585

Intronic

–

MLH1

37070437

rs41562513

c.1558+14G>A

0.0501198

Intronic

Benign

MRE11A

94179125

rs1014666

c.1784−69A>G

0.517173

Intronic

–

94212048

rs535801

c.403−6G>A

0.313099

Splicing

Benign

94197568

rs640627

c.1099−163G>A

0.314896

Intronic

–

94225807

rs496797

c.20+141G>A

0.552915

Splicing

–

94225920

rs497763

c.20+28G>A

0.457268

Intronic

Benign

94212154

rs680695

c.403−112T>C

0.313099

Intronic

–

MSH2

47656801

rs2347794

c.1077−80G>A

0.59365

Intronic

Benign

47630550

rs2303426

c.211+9C>A

0.628395

Intronic

Benign

47693959

rs3732183

c.1661+12G>A

0.483427

Intronic

Benign

47693706

rs3732182

c.1511−91G>T

0.483027

Intronic

Benign

47739551

rs2303424

c.2744A>G

0.527955

Intergenic

–

NBN

90983317

rs104895036

c.456+84G>C

0.00139776

Intronic

–

NF1

29685905

rs34513299

c.8051−82A>G

0.00199681

Intronic

–

PALB2

23640467

rs249954

c.2586+58C>T

0.35004

Intronic

Benign

23652525

rs8053188

c.−339C>T

0.0662939

UTR5

Benign

PMS2

6037058

rs549498051

c.706−5delT

0.453075

Splicing

Benign

PTEN

No detected variants

RAD50

131927748

rs10520116

c.1793+22T>C

0.0129792

Intronic

–

131944964

rs2066742

c.2923−11_2923−10insT

0.0734824

Intronic

Likely benign

131928652

rs2706366

c.1793+926A>G

0.123003

Intronic

–

131892979

rs4526098

c.−38A>G

0.92492

UTR5

Benign

RAD51B

68290372

rs17783124

c.84+28T>G

0.250399

Intronic

–

68290464

rs28623567

c.84+120G>A

0.2498

Intronic

–

68937054

rs142879847

c.1036+2087A>G

0.00798722

Intronic

–

68758575

rs10129646

c.757−26T>C

0.138379

Intronic

–

68301767

rs34564590

c.199−29_199−28insA

0.319489

Intronic

–

68290426

rs28604984

c.84+82T>C

0.2498

Intronic

–

68934860

rs34436700

c.958−29A>G

0.00778754

Intronic

Likely benign

69117512

rs8023214

c.1037−32142T>C

0.528554

Intergenic

–

69117387

rs8021657

c.1037−32267A>G

0.527556

Intergenic

–

RAD51C

56798207

rs28363318

c.904+34T>C

0.205272

Intronic

–

56769979

rs12946397

c.−681G>A

0.158347

UTR5

Likely benign

RAD51D

No detected variants

RECQL

21629993

rs397718052

c.868−68_868−67insG

0.488818

Intronic

–

21628320

rs10841831

c.1216+82G>A

0.486821

Intronic

–

21628791

rs3752648

c.950−33A>G

0.48742

Intronic

–

21628336

rs10841832

c.1216+66C>T

0.486821

Intronic

–

RINT1

No detected variants

STK11

No detected variants

TP53

No detected variants

XRCC2

No detected variants