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. 2021 Apr 19;11:8485. doi: 10.1038/s41598-021-87792-w

Table 2.

Top 10 high-frequency mutations based on the number of patients.

BRCA1 RS_number ClinVar No. of patients OR CI
c.4883T>C rs4986854 Benign 57 0.8649 0.5865–1.2754
c.4484 + 14A>G rs80358022 Benign 41 0.5823 0.3845–0.8818
c.2566T>C rs80356892 Benign 40 0.3659 0.2491–0.5374
c.3113A>G rs16941 Benign 17 0.0079 0.0049–0.0128
c.154C>T rs80357084 Conflicting interpretations of pathogenicity 15 0.4646 0.2421–0.8914
c.5339T>C rs80357474 Conflicting interpretations of pathogenicity 12 8.5181 1.1192–64.8277
c.4729T>C rs80356909 Conflicting interpretations of pathogenicity 9 1.2874 0.4314–3.8417
c.3448C>T rs80357272 Benign 8 0.6349 0.2448–1.6464
c.3548A>G rs16942 Benign 8 0.0046 0.0025–0.0086
c.547 + 14delG rs273902771 Conflicting interpretations of pathogenicity 6
BRCA2 RS_number ClinVar No. of patients OR CI
c.10234A>G rs1801426 Benign 67 0.6443 0.4627–0.8972
c.8187G>T rs80359065 Benign 57 0.7962 0.5445–1.1643
c.9649-19G>A rs11571830 Benign 40 0.5462 0.3609–0.8266
c.5785A>G rs79538375 Benign 33 0.8118 0.4922–1.339
c.2971A>G rs1799944 Benign 29 0.0432 0.0299–0.0623
c.2350A>G rs11571653 Benign 28 0.4624 0.2868–0.7456
c.1744A>C rs80358457 Benign 24 0.7135 0.4046–1.2581
c.7052C>G rs80358932 Benign/likely benign 12 0.6115 0.2826–1.3231
c.6325G>A rs79456940 Conflicting interpretations of pathogenicity 10 0.6488 0.2754–1.5285
c.623T>G rs80358865 Uncertain significance 9 1.2867 0.4313–3.8389