Table 3.
List of participants with more than one P/LP variant
| Participant | Variants identified | Genes | Classifications | Variant types |
|---|---|---|---|---|
| 1 | GenBank: NM_000038.6; c.3920T>A (p.Ile1307Lys) | APC | population-specific risk factor | missense |
| GenBank: NM_007194.4; c.1100del (p.Thr367Metfs∗15) | CHEK2 | pathogenic | frameshift | |
| 2 | GenBank: NM_007194.4; c.433C>T (p.Arg145Trp) | CHEK2 | likely pathogenic | missense |
| GenBank: NM_000248.4; c.952G>A (p.Glu318Lys) | MITF | pathogenic | missense | |
| 3 | GenBank: NM_000038.6; c.3920T>A (p.Ile1307Lys) | APC | population-specific risk factor | missense |
| GenBank: NM_007194.4; c.1283C>T (p.Ser428Phe) | CHEK2 | pathogenica | missense | |
| 4 | GenBank: NM_000051.4; c.2T>C (p.Met1?) | ATM | pathogenic | start loss |
| GenBank: NM_000179.3; c.2731C>T (p.Arg911∗) | MSH6 | pathogenic | nonsense | |
| 5 | GenBank: NM_000051.4; c.15dup (p.Asn6∗) | ATM | pathogenic | nonsense |
| GenBank: NM_024675.4; c.2032del (p.Leu678Tyrfs∗31) | PALB2 | pathogenic | frameshift | |
| 6 | GenBank: NM_000051.4; c.15dup (p.Asn6∗) | ATM | pathogenic | nonsense |
| GenBank: NM_024675.4; c.2032del (p.Leu678Tyrfs∗31) | PALB2 | pathogenic | frameshift | |
| 7 | GenBank: NM_007194.4; c.1100del (p.Thr367Metfs∗15) | CHEK2 | pathogenic | frameshift |
| GenBank: NM_007194.4; c.470T>C (p.Ile157Thr) | CHEK2 | likely pathogenic risk factora | missense | |
| 8 | GenBank: NM_000051.4; c.3G>A (p.Met1?) | ATM | pathogenic | start loss |
| GenBank: NM_000535.7; c.2249G>A (p.Gly750Asp) | PMS2 | likely pathogenic | missense | |
| 9 | GenBank: NM_007194.4; c.1263del (p.Ser422Valfs∗15) | CHEK2 | pathogenic | frameshift |
| GenBank: NM_000248.4; c.952G>A (p.Glu318Lys) | MITF | pathogenic | missense | |
| 10 | GenBank: NM_007194.4; c.1100del (p.Thr367Metfs∗15) | CHEK2 | pathogenic | frameshift |
| GenBank: NM_000248.4; c.952G>A (p.Glu318Lys) | MITF | pathogenic | missense | |
| 11 | GenBank: NM_007194.4; c.470T>C (p.Ile157Thr) | CHEK2 | likely pathogenic risk factora | missense |
| GenBank: NM_032043.3; c.1372G>T (p.Glu458∗) | BRIP1 | pathogenic | nonsense | |
| 12 | GenBank: NM_007194.4; c.470T>C (p.Ile157Thr) | CHEK2 | likely pathogenic risk factora | missense |
| GenBank: NM_000249.4; c.1517T>C (p.Val506Ala) | MLH1 | likely pathogenic | missense | |
| 13 | GenBank: NM_001048174.2; c.452A>G (p.Tyr151Cys) | MUTYH | pathogenic | missense |
| GenBank: NM_001048174.2; c.1103G>A (p.Gly368Asp) | MUTYH | pathogenic | missense | |
| 14 | GenBank: NM_001048174.2; c.452A>G (p.Tyr151Cys) | MUTYH | pathogenic | missense |
| GenBank: NM_001048174.2; c.1103G>A (p.Gly368Asp) | MUTYH | pathogenic | missense | |
| 15 | GenBank: NM_001048174.2; c.452A>G (p.Tyr151Cys) | MUTYH | pathogenic | missense |
| GenBank: NM_001048174.2; c.1103G>A (p.Gly368Asp) | MUTYH | pathogenic | missense | |
| 16 | GenBank: NM_007194.4; c.470T>C (p.Ile157Thr) | CHEK2 | likely pathogenic risk factora | missense |
| GenBank: NM_000527.5; c.1775G>A (p.Gly592Glu) | LDLR | pathogenic | missense | |
| 17 | GenBank: NM_000535.7; c.1927C>T (p.Gln643∗) | PMS2 | pathogenic | nonsense |
| GenBank: NM_000527.5; c.798T>A (p.Asp266Glu) | LDLR | pathogenic | missense | |
| 18 | GenBank: NM_007294.4; c.2681_2682del (p.Lys894Thrfs∗8) | BRCA1 | pathogenic | frameshift |
| GenBank: NM_000527.5; c.1027G>A (p.Gly343Ser) | LDLR | pathogenic | missense | |
| 19 | GenBank: NM_000059.4; c.6275_6276del (p.Leu2092Profs∗7) | BRCA2 | pathogenic | frameshift |
| GenBank: NM_000527.5; c.2054C>T (p.Pro685Leu) | LDLR | pathogenic | missense | |
| 20 | GenBank: NM_000059.4; c.4449del (p.Asp1484Thrfs∗2) | BRCA2 | pathogenic | frameshift |
| GenBank: NM_000527.5; c.301G>A (p.Glu101Lys) | LDLR | pathogenic | missense |
P/LP, pathogenic or likely pathogenic
a
Low penetrance