ClinVar Miner

Variants with conflicting interpretations "likely benign" from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and "uncertain significance" from Breast Cancer Information Core (BIC) (BRCA2)

Minimum review status of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA): Collection method of the submission from Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 39
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=) rs80359795 0.00004
NM_000059.4(BRCA2):c.9237T>C (p.Val3079=) rs80359805 0.00003
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=) rs80359782 0.00002
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840 0.00001
NM_000059.4(BRCA2):c.441A>G (p.Gln147=) rs80358676 0.00001
NM_000059.4(BRCA2):c.4830G>A (p.Val1610=) rs80359789 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.7182A>G (p.Arg2394=) rs80359797 0.00001
NM_000059.4(BRCA2):c.8103T>G (p.Ser2701=) rs80359801 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9646C>T (p.Leu3216=) rs80359809 0.00001
NM_000059.4(BRCA2):c.10251T>C (p.Tyr3417=) rs80359779
NM_000059.4(BRCA2):c.1149C>A (p.Ile383=) rs80359780
NM_000059.4(BRCA2):c.1188T>G (p.Ser396=) rs80359781
NM_000059.4(BRCA2):c.1599T>C (p.Thr533=) rs80359783
NM_000059.4(BRCA2):c.1911T>G (p.Gly637=) rs11571652
NM_000059.4(BRCA2):c.1959A>G (p.Glu653=) rs276174817
NM_000059.4(BRCA2):c.2337G>T (p.Leu779=) rs80359784
NM_000059.4(BRCA2):c.3909C>A (p.Gly1303=) rs80359786
NM_000059.4(BRCA2):c.3966C>T (p.Asn1322=) rs80358647
NM_000059.4(BRCA2):c.4089C>T (p.Asn1363=) rs80359787
NM_000059.4(BRCA2):c.549T>C (p.Ser183=) rs80359792
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.6420T>G (p.Gly2140=) rs80359794
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.4(BRCA2):c.7152A>G (p.Gln2384=) rs80359796
NM_000059.4(BRCA2):c.7764A>T (p.Ile2588=) rs80359798
NM_000059.4(BRCA2):c.7947A>G (p.Pro2649=) rs80359799
NM_000059.4(BRCA2):c.7992T>C (p.Ile2664=) rs80359800
NM_000059.4(BRCA2):c.8187G>A (p.Lys2729=) rs80359065
NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=) rs276174924
NM_000059.4(BRCA2):c.9414A>G (p.Leu3138=) rs80359807
NM_000059.4(BRCA2):c.9843A>C (p.Pro3281=) rs11571832

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