Knowledge base for genomic medicine in Japanese
家族性膵がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000059.4(BRCA2):c.8084C>G (p.Ser2695Ter)BRCA2Pathogenic133293742332937423CGreviewed by expert panelClinGen:CA025443
single nucleotide variantNM_000059.4(BRCA2):c.8087T>A (p.Leu2696Ter)BRCA2Pathogenic133293742632937426TAreviewed by expert panelClinGen:CA025447
DeletionNM_000059.4(BRCA2):c.8087del (p.Ser2695_Leu2696insTer)BRCA2Pathogenic133293742532937425ATAreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):8315&base_change=del T,ClinGen:CA025446
single nucleotide variantNM_000059.4(BRCA2):c.809C>G (p.Ser270Ter)BRCA2Pathogenic133290642432906424CGreviewed by expert panelClinGen:CA025454
DeletionNM_000059.4(BRCA2):c.8130del (p.Ser2710fs)BRCA2Pathogenic133293746932937469GTGreviewed by expert panelBreast Cancer Information Core (BIC) (BRCA2):8358&base_change=del T,ClinGen:CA025465
single nucleotide variantNM_000059.4(BRCA2):c.8140C>T (p.Gln2714Ter)BRCA2Pathogenic133293747932937479CTreviewed by expert panelClinGen:CA025469
single nucleotide variantNM_000059.4(BRCA2):c.8167G>C (p.Asp2723His)BRCA2Pathogenic133293750632937506GCreviewed by expert panelClinGen:CA025482
single nucleotide variantNM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala)BRCA2Pathogenic133293750732937507ACreviewed by expert panelClinGen:CA025483
single nucleotide variantNM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val)BRCA2Likely pathogenic133293751032937510GTcriteria provided, single submitterClinGen:CA025486
DuplicationNM_000059.4(BRCA2):c.8172_8175dup (p.Tyr2726fs)BRCA2Pathogenic133293750732937508AATGGGreviewed by expert panelClinGen:CA025489