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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