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. Author manuscript; available in PMC: 2025 Mar 1.
Published in final edited form as: DNA Repair (Amst). 2024 Feb 1;135:103644. doi: 10.1016/j.dnarep.2024.103644

Table 2. M1 and M10 RAD51C variants.

RAD51C variants identified on ClinVar and gnomAD. The variants in black text were analyzed in this study whereas the variants in grey text were excluded from analysis since they were recently added to ClinVar. The variant, nucleotide change, population frequency from gnomAD, the number of affected individuals, and variant source are shown. Table last updated 8/25/23.

Variant Nucleotide Change Population Frequency Affected Individuals Cancer Type Source
M1I 3G>C
3G>A
3G>T
-
3.19 × 10−5
-
1
7
7
Not listed
Breast
Breast, Ovarian
ClinVar
ClinVar, gnomAD, [22]
ClinVar, [23]
M1L 1A>T - 3 ClinVar
M1V 1A>G - 4 ClinVar
M1T 2T>C - 1 ClinVar
M10I 30G>T
30G>A
3.98 × 10−6
3.98 × 10−6
3
1
ClinVar, gnomAD
ClinVar, gnomAD
M10K 29T>A - 1 ClinVar
M10L 28A>T 3.19 × 10−5 5 Breast ClinVar, gnomAD, [24]
M10R 29T>G 7.95 × 10−5 11 Breast, Ovarian ClinVar, gnomAD, [25], [26], [27], [28]
M10T 29T>C - 1 ClinVar
M10V 28A>G - 2 ClinVar