ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Breast Cancer Information Core (BIC) (BRCA2) and "pathogenic" from any submitter

Minimum review status of the submission from Breast Cancer Information Core (BIC) (BRCA2): Collection method of the submission from Breast Cancer Information Core (BIC) (BRCA2):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 36
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu) rs80358891 0.00003
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000059.4(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
BRCA2: exon 2 deletion
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3901ACT[1] (p.Thr1302del) rs80359414
NM_000059.4(BRCA2):c.475+3A>T rs81002795
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.6449_6450insTA (p.Lys2150fs) rs276174872
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7805+3A>C rs81002810
NM_000059.4(BRCA2):c.7806-9T>G rs397507939
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7976G>C (p.Arg2659Thr) rs80359027
NM_000059.4(BRCA2):c.7977-2A>T rs276174899
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9285C>G (p.Asp3095Glu) rs80359198
NM_000059.4(BRCA2):c.9466C>T (p.Gln3156Ter) rs276174925

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